ABCB4 (ATP binding cassette subfamily B member 4) - Rat Genome Database
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Gene: ABCB4 (ATP binding cassette subfamily B member 4) Homo sapiens
Analyze
Symbol: ABCB4
Name: ATP binding cassette subfamily B member 4
RGD ID: 736946
HGNC Page HGNC
Description: Exhibits ATPase-coupled transmembrane transporter activity and phosphatidylcholine floppase activity. Involved in several processes, including cellular response to bile acid; phospholipid translocation; and positive regulation of lipid transport. Localizes to several cellular components, including actin cytoskeleton; apical plasma membrane; and focal adhesion. Implicated in cholestasis (multiple); gallbladder disease; and liver cirrhosis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC21; ATP-binding cassette sub-family B member 4; ATP-binding cassette, sub-family B (MDR/TAP), member 4; GBD1; ICP3; MDR2; MDR2/3; MDR3; multidrug resistance protein 3; multiple drug resistance 3; P glycoprotein 3/multiple drug resistance 3; P-glycoprotein 3; P-glycoprotein-3/multiple drug resistance-3; PFIC-3; PGY3; phosphatidylcholine translocator ABCB4
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl787,401,697 - 87,480,435 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl787,401,696 - 87,480,435 (-)EnsemblGRCh38hg38GRCh38
GRCh38787,398,988 - 87,476,722 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37787,031,361 - 87,105,019 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36786,869,297 - 86,942,955 (-)NCBINCBI36hg18NCBI36
Build 34786,676,016 - 86,754,402NCBI
Celera781,736,239 - 81,809,903 (-)NCBI
Cytogenetic Map7q21.12NCBI
HuRef781,642,357 - 81,716,022 (-)NCBIHuRef
CHM1_1786,961,467 - 87,035,121 (-)NCBICHM1_1
CRA_TCAGchr7v2786,362,871 - 86,436,531 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
(6aR,9R)-N-[(2S)-1-hydroxybutan-2-yl]-4,7-dimethyl-6,6a,8,9-tetrahydroindolo[4,3-fg]quinoline-9-carboxamide  (EXP)
(RS)-coclaurine  (ISO)
(RS)-norcoclaurine  (ISO)
(S)-coclaurine  (ISO)
1,2-dimethylhydrazine  (ISO)
1,9-dideoxyforskolin  (ISO)
1-[4-(1,3-benzodioxol-5-ylmethyl)-1-piperazinyl]-2-(4-chlorophenoxy)ethanone  (EXP)
1-naphthyl isothiocyanate  (EXP,ISO)
1-phenyl-1-cyclopentanecarboxylic acid 2-[2-(diethylamino)ethoxy]ethyl ester  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
17beta-estradiol 17-glucosiduronic acid  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-D  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3-methylcholanthrene  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (EXP)
adefovir  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (EXP)
alpha-hexachlorocyclohexane  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
aspartame  (ISO)
atorvastatin calcium  (ISO)
azathioprine  (ISO)
beclomethasone  (EXP)
benzarone  (EXP)
benzatropine  (EXP)
benzbromarone  (EXP)
benziodarone  (EXP)
benzo[a]pyrene  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bezafibrate  (EXP,ISO)
bicalutamide  (EXP)
biperiden  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bosentan  (EXP)
bromosulfophthalein  (ISO)
brompheniramine  (EXP)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
carbon nanotube  (ISO)
carboplatin  (ISO)
chenodeoxycholic acid  (EXP,ISO)
chlorphenamine  (EXP)
chlorpromazine  (EXP)
cholesterol  (ISO)
cholic acid  (ISO)
chromium(6+)  (ISO)
ciprofibrate  (ISO)
clemastine  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
colforsin daropate hydrochloride  (EXP)
copper(II) sulfate  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP,ISO)
deoxycholic acid  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (EXP)
dihydroergotamine  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
doxycycline  (ISO)
doxylamine  (EXP)
ebrotidine  (EXP)
emodin  (ISO)
entinostat  (EXP)
esmolol  (EXP)
ethanol  (ISO)
fenofibrate  (EXP,ISO)
flutamide  (EXP,ISO)
fluvoxamine  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glutathione  (ISO)
glyburide  (ISO)
glycyrrhetinate  (ISO)
glycyrrhetinic acid  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
griseofulvin  (ISO)
guanethidine  (EXP)
guggulsterone  (ISO)
GW 4064  (EXP,ISO)
herbicide  (ISO)
hydroxyzine  (EXP)
indocyanine green  (ISO)
isoprenaline  (EXP,ISO)
ketoconazole  (EXP,ISO)
labetalol  (EXP)
lapatinib  (EXP)
leflunomide  (EXP,ISO)
lipopolysaccharide  (ISO)
lithocholic acid  (ISO)
Loratadine  (EXP)
LY-2157299  (ISO)
metformin  (ISO)
methapyrilene  (EXP,ISO)
methotrexate  (EXP)
methoxsalen  (EXP,ISO)
methyltestosterone  (EXP)
methysergide  (EXP)
monosodium L-glutamate  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-nitrosodiethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
nefazodone  (EXP,ISO)
nitrofurantoin  (EXP)
nomifensine  (EXP)
nortriptyline  (EXP)
O-methyleugenol  (EXP)
obeticholic acid  (EXP,ISO)
omeprazole  (EXP)
oxaliplatin  (ISO)
oxybutynin  (EXP)
oxycodone  (ISO)
paclitaxel  (EXP)
paliperidone palmitate  (EXP)
paracetamol  (EXP,ISO)
pazopanib  (EXP)
penbutolol  (EXP)
perfluoroheptanoic acid  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
perhexiline  (EXP,ISO)
phenazopyridine  (EXP)
phenformin  (ISO)
phenobarbital  (ISO)
Phenoxybenzamine  (EXP)
phentolamine  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
phosphatidylcholine  (EXP,ISO)
physcion  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
primaquine  (EXP)
procyclidine  (EXP)
procymidone  (ISO)
propiconazole  (ISO)
protriptyline  (EXP)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
rifampicin  (EXP)
ritonavir  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
simvastatin  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
soybean oil  (ISO)
streptozocin  (ISO)
tacrine  (EXP)
tamoxifen  (EXP,ISO)
tamsulosin  (EXP)
tasosartan  (EXP)
taurocholic acid  (ISO)
Technetium tc 99m sestamibi  (ISO)
tenofovir disoproxil fumarate  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
tipranavir  (EXP)
titanium dioxide  (ISO)
tolterodine tartrate  (EXP)
topotecan  (ISO)
triadimefon  (ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
troglitazone  (EXP,ISO)
tungsten  (ISO)
ursodeoxycholic acid  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
verapamil  (EXP,ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
Y-27632  (EXP)
yohimbine  (ISO)
zafirlukast  (EXP)
zimeldine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Aronson SJ, etal., J Hepatol. 2019 Jul;71(1):153-162. doi: 10.1016/j.jhep.2019.03.021. Epub 2019 Mar 29.
2. de Vree JM, etal., Proc Natl Acad Sci U S A 1998 Jan 6;95(1):282-7.
3. Degiorgio D, etal., J Gastroenterol. 2016 Mar;51(3):271-80. doi: 10.1007/s00535-015-1110-z. Epub 2015 Sep 1.
4. Fang LJ, etal., J Pediatr Gastroenterol Nutr. 2012 Aug;55(2):150-6. doi: 10.1097/MPG.0b013e31824ef36f.
5. Fickert P, etal., Gastroenterology. 2004 Jul;127(1):261-74.
6. Gotthardt D, etal., Hepatology. 2008 Oct;48(4):1157-66. doi: 10.1002/hep.22485.
7. Hagenbuch B, etal., News Physiol Sci 2002 Dec;17:231-4.
8. Hyogo H, etal., Dig Dis Sci. 2001 Oct;46(10):2089-97.
9. Jirsa M, etal., World J Gastroenterol. 2014 May 21;20(19):5867-74. doi: 10.3748/wjg.v20.i19.5867.
10. Nakken KE, etal., Scand J Gastroenterol. 2007 Oct;42(10):1245-55. doi: 10.1080/00365520701320521.
11. Ohishi Y, etal., Hepatology. 2008 Sep;48(3):853-62. doi: 10.1002/hep.22382.
12. OMIM Disease Annotation Pipeline
13. Pipeline to import KEGG annotations from KEGG into RGD
14. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. RGD automated import pipeline for gene-chemical interactions
16. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Smit JJ, etal., Cell 1993 Nov 5;75(3):451-62.
18. Tomaiuolo R, etal., Dig Liver Dis. 2009 Nov;41(11):817-22. Epub 2009 May 20.
19. van Waarde WM, etal., Gastroenterology. 2002 Jun;122(7):1842-52.
20. Ziol M, etal., Gastroenterology. 2008 Jul;135(1):131-41. doi: 10.1053/j.gastro.2008.03.044. Epub 2008 Mar 26.
Additional References at PubMed
PMID:2002063   PMID:2892668   PMID:2906314   PMID:3477522   PMID:7734012   PMID:7893760   PMID:7912266   PMID:7912658   PMID:8898203   PMID:9542318   PMID:9923886   PMID:10767346  
PMID:11313316   PMID:11745043   PMID:12206920   PMID:12381474   PMID:12388190   PMID:12477932   PMID:12690205   PMID:12746424   PMID:12853948   PMID:12891548   PMID:14527955   PMID:14999697  
PMID:15077010   PMID:15159385   PMID:15258199   PMID:16696816   PMID:16763017   PMID:16854530   PMID:16857572   PMID:16890614   PMID:16891356   PMID:17187437   PMID:17264802   PMID:17523162  
PMID:17562004   PMID:17726488   PMID:17786139   PMID:18083082   PMID:18231753   PMID:18660489   PMID:19018976   PMID:19185004   PMID:19261551   PMID:19266607   PMID:19343046   PMID:19408031  
PMID:19584064   PMID:19593667   PMID:19674157   PMID:19794400   PMID:19840247   PMID:19913121   PMID:19998509   PMID:20163776   PMID:20414253   PMID:20422496   PMID:20453000   PMID:20628086  
PMID:20683201   PMID:20855565   PMID:21072184   PMID:21119540   PMID:21161147   PMID:21638239   PMID:21705081   PMID:21873635   PMID:21988832   PMID:21989363   PMID:22098322   PMID:22184139  
PMID:22331132   PMID:22387667   PMID:22982378   PMID:23022423   PMID:23261441   PMID:23468132   PMID:23533145   PMID:23574360   PMID:24045840   PMID:24122873   PMID:24140176   PMID:24366234  
PMID:24594635   PMID:24723470   PMID:24732756   PMID:24806754   PMID:25029804   PMID:25134534   PMID:25173835   PMID:25367630   PMID:25533467   PMID:25593501   PMID:25601960   PMID:25807286  
PMID:25882097   PMID:25888430   PMID:26153658   PMID:26242827   PMID:26256905   PMID:26410236   PMID:26474921   PMID:26699824   PMID:26735860   PMID:26789121   PMID:26796082   PMID:26845599  
PMID:27075526   PMID:27112167   PMID:27256251   PMID:27788395   PMID:27825922   PMID:28012258   PMID:28061436   PMID:28220208   PMID:28274756   PMID:28355206   PMID:28441502   PMID:28587926  
PMID:28733223   PMID:29238877   PMID:29371412   PMID:29777275   PMID:29992621   PMID:30079523   PMID:30091450   PMID:30449124   PMID:30782273   PMID:30964181   PMID:31105019   PMID:31176036  
PMID:31873305   PMID:31886153   PMID:32058310  


Genomics

Comparative Map Data
ABCB4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl787,401,697 - 87,480,435 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl787,401,696 - 87,480,435 (-)EnsemblGRCh38hg38GRCh38
GRCh38787,398,988 - 87,476,722 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37787,031,361 - 87,105,019 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36786,869,297 - 86,942,955 (-)NCBINCBI36hg18NCBI36
Build 34786,676,016 - 86,754,402NCBI
Celera781,736,239 - 81,809,903 (-)NCBI
Cytogenetic Map7q21.12NCBI
HuRef781,642,357 - 81,716,022 (-)NCBIHuRef
CHM1_1786,961,467 - 87,035,121 (-)NCBICHM1_1
CRA_TCAGchr7v2786,362,871 - 86,436,531 (-)NCBI
Abcb4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3958,943,614 - 9,009,226 (+)NCBIGRCm39mm39
GRCm3858,893,614 - 8,959,226 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl58,893,717 - 8,959,231 (+)EnsemblGRCm38mm10GRCm38
MGSCv3758,893,721 - 8,959,226 (+)NCBIGRCm37mm9NCBIm37
MGSCv3658,899,723 - 8,965,232 (+)NCBImm8
Celera58,813,446 - 8,878,635 (+)NCBICelera
Cytogenetic Map5A1NCBI
cM Map53.43NCBI
Abcb4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0422,133,984 - 22,192,687 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl422,133,521 - 22,425,515 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0422,070,806 - 22,128,781 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4421,946,274 - 22,004,328 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1421,946,273 - 22,004,328 (+)NCBI
Celera420,645,103 - 20,702,285 (-)NCBICelera
Cytogenetic Map4q12NCBI
ABCB4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1793,046,085 - 93,119,439 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl793,046,085 - 93,119,439 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0779,395,924 - 79,469,755 (-)NCBIMhudiblu_PPA_v0panPan3
ABCB4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1413,548,462 - 13,614,571 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11413,542,610 - 13,614,334 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Abcb4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049367631,339,849 - 1,415,528 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCB4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1993,171,371 - 93,262,124 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29102,651,665 - 102,741,039 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABCB4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12161,459,344 - 61,529,017 (+)NCBI

Position Markers
RH17678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,133,587 - 87,133,768UniSTSGRCh37
GRCh37787,031,440 - 87,031,621UniSTSGRCh37
Build 36786,869,376 - 86,869,557RGDNCBI36
Celera781,838,471 - 81,838,652UniSTS
Celera781,736,318 - 81,736,499RGD
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map7q21.1UniSTS
HuRef781,642,436 - 81,642,617UniSTS
HuRef781,744,590 - 81,744,771UniSTS
CRA_TCAGchr7v2786,465,099 - 86,465,280UniSTS
CRA_TCAGchr7v2786,362,950 - 86,363,131UniSTS
GeneMap99-GB4 RH Map7474.18UniSTS
SHGC-80903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,037,211 - 87,037,521UniSTSGRCh37
Build 36786,875,147 - 86,875,457RGDNCBI36
Celera781,742,089 - 81,742,399RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,648,208 - 81,648,518UniSTS
CRA_TCAGchr7v2786,368,721 - 86,369,031UniSTS
TNG Radiation Hybrid Map737922.0UniSTS
D7S2163E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,068,875 - 87,068,988UniSTSGRCh37
Build 36786,906,811 - 86,906,924RGDNCBI36
Celera781,773,760 - 81,773,873RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,679,879 - 81,679,992UniSTS
CRA_TCAGchr7v2786,400,388 - 86,400,501UniSTS
G20675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,068,842 - 87,069,024UniSTSGRCh37
Build 36786,906,778 - 86,906,960RGDNCBI36
Celera781,773,727 - 81,773,909RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,679,846 - 81,680,028UniSTS
CRA_TCAGchr7v2786,400,355 - 86,400,537UniSTS
A006B20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,068,842 - 87,069,024UniSTSGRCh37
Build 36786,906,778 - 86,906,960RGDNCBI36
Celera781,773,727 - 81,773,909RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,679,846 - 81,680,028UniSTS
CRA_TCAGchr7v2786,400,355 - 86,400,537UniSTS
GeneMap99-GB4 RH Map7484.07UniSTS
PGY3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,031,399 - 87,031,526UniSTSGRCh37
Build 36786,869,335 - 86,869,462RGDNCBI36
Celera781,736,277 - 81,736,404RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,642,395 - 81,642,522UniSTS
CRA_TCAGchr7v2786,362,909 - 86,363,036UniSTS
G20448  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,070,619 - 87,070,781UniSTSGRCh37
Build 36786,908,555 - 86,908,717RGDNCBI36
Celera781,775,504 - 81,775,666RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,681,623 - 81,681,785UniSTS
CRA_TCAGchr7v2786,402,132 - 86,402,294UniSTS
A005R35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37787,070,619 - 87,070,781UniSTSGRCh37
Build 36786,908,555 - 86,908,717RGDNCBI36
Celera781,775,504 - 81,775,666RGD
Cytogenetic Map7q21.1UniSTS
HuRef781,681,623 - 81,681,785UniSTS
CRA_TCAGchr7v2786,402,132 - 86,402,294UniSTS
GeneMap99-GB4 RH Map7475.84UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1113
Count of miRNA genes:651
Interacting mature miRNAs:731
Transcripts:ENST00000265723, ENST00000358400, ENST00000359206, ENST00000417608, ENST00000440025, ENST00000453593, ENST00000467079, ENST00000467983, ENST00000469770, ENST00000473795, ENST00000545634
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 7 3 416 381 131 381 35 1 5 3 4 4
Low 1343 1775 821 136 1010 56 3113 1542 845 193 858 590 84 1 591 2053 4
Below cutoff 1042 1198 480 100 748 21 1198 630 2854 195 539 915 86 612 729 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ861369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF034088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF035007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU142941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU142942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU142943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ540315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN392444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC505181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M23234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z35284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z35286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265723   ⟹   ENSP00000265723
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,402,049 - 87,475,739 (-)Ensembl
RefSeq Acc Id: ENST00000358400   ⟹   ENSP00000351172
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,402,045 - 87,475,703 (-)Ensembl
RefSeq Acc Id: ENST00000359206   ⟹   ENSP00000352135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,402,059 - 87,475,848 (-)Ensembl
RefSeq Acc Id: ENST00000417608   ⟹   ENSP00000394511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,462,861 - 87,480,435 (-)Ensembl
RefSeq Acc Id: ENST00000440025   ⟹   ENSP00000395716
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,401,697 - 87,403,201 (-)Ensembl
RefSeq Acc Id: ENST00000453593   ⟹   ENSP00000392983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,402,096 - 87,475,465 (-)Ensembl
RefSeq Acc Id: ENST00000467079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,405,920 - 87,408,234 (-)Ensembl
RefSeq Acc Id: ENST00000467983
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,402,134 - 87,403,379 (-)Ensembl
RefSeq Acc Id: ENST00000469770
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,423,575 - 87,431,500 (-)Ensembl
RefSeq Acc Id: ENST00000473795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,452,372 - 87,475,472 (-)Ensembl
RefSeq Acc Id: ENST00000643670   ⟹   ENSP00000496629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,423,849 - 87,475,408 (-)Ensembl
RefSeq Acc Id: ENST00000644106   ⟹   ENSP00000493477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,426,822 - 87,475,658 (-)Ensembl
RefSeq Acc Id: ENST00000649586   ⟹   ENSP00000496956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl787,401,696 - 87,475,680 (-)Ensembl
RefSeq Acc Id: NM_000443   ⟹   NP_000434
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,401,696 - 87,475,680 (-)NCBI
GRCh37787,031,361 - 87,105,019 (-)ENTREZGENE
Build 36786,869,297 - 86,942,955 (-)NCBI Archive
HuRef781,642,357 - 81,716,022 (-)ENTREZGENE
CHM1_1786,961,467 - 87,035,121 (-)NCBI
CRA_TCAGchr7v2786,362,871 - 86,436,531 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_018849   ⟹   NP_061337
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,401,696 - 87,475,680 (-)NCBI
GRCh37787,031,361 - 87,105,019 (-)ENTREZGENE
Build 36786,869,297 - 86,942,955 (-)NCBI Archive
HuRef781,642,357 - 81,716,022 (-)ENTREZGENE
CHM1_1786,961,467 - 87,035,121 (-)NCBI
CRA_TCAGchr7v2786,362,871 - 86,436,531 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_018850   ⟹   NP_061338
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,401,696 - 87,475,680 (-)NCBI
GRCh37787,031,361 - 87,105,019 (-)ENTREZGENE
Build 36786,869,297 - 86,942,955 (-)NCBI Archive
HuRef781,642,357 - 81,716,022 (-)ENTREZGENE
CHM1_1786,961,467 - 87,035,121 (-)NCBI
CRA_TCAGchr7v2786,362,871 - 86,436,531 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011516308   ⟹   XP_011514610
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,398,988 - 87,476,719 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516309   ⟹   XP_011514611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,398,988 - 87,476,715 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516310   ⟹   XP_011514612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,398,988 - 87,476,722 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516311   ⟹   XP_011514613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,398,988 - 87,476,720 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516312   ⟹   XP_011514614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,398,988 - 87,476,718 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516313   ⟹   XP_011514615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,402,044 - 87,476,713 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011516315   ⟹   XP_011514617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,398,988 - 87,453,032 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012323   ⟹   XP_016867812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,398,988 - 87,475,714 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744809
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,402,112 - 87,476,535 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001744810
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,418,553 - 87,476,530 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000434 (Get FASTA)   NCBI Sequence Viewer  
  NP_061337 (Get FASTA)   NCBI Sequence Viewer  
  NP_061338 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514610 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514611 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514612 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514613 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514614 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514615 (Get FASTA)   NCBI Sequence Viewer  
  XP_011514617 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867812 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36207 (Get FASTA)   NCBI Sequence Viewer  
  AAD05023 (Get FASTA)   NCBI Sequence Viewer  
  AAH20618 (Get FASTA)   NCBI Sequence Viewer  
  AAH42531 (Get FASTA)   NCBI Sequence Viewer  
  ABH04421 (Get FASTA)   NCBI Sequence Viewer  
  ABH04422 (Get FASTA)   NCBI Sequence Viewer  
  ABH04423 (Get FASTA)   NCBI Sequence Viewer  
  ABH04424 (Get FASTA)   NCBI Sequence Viewer  
  ABH04425 (Get FASTA)   NCBI Sequence Viewer  
  ABH04426 (Get FASTA)   NCBI Sequence Viewer  
  ABH04427 (Get FASTA)   NCBI Sequence Viewer  
  ABH04428 (Get FASTA)   NCBI Sequence Viewer  
  ABH04429 (Get FASTA)   NCBI Sequence Viewer  
  ABH04430 (Get FASTA)   NCBI Sequence Viewer  
  ABH04431 (Get FASTA)   NCBI Sequence Viewer  
  ABH04432 (Get FASTA)   NCBI Sequence Viewer  
  ABH04433 (Get FASTA)   NCBI Sequence Viewer  
  ABH04434 (Get FASTA)   NCBI Sequence Viewer  
  ABH04435 (Get FASTA)   NCBI Sequence Viewer  
  ABH04436 (Get FASTA)   NCBI Sequence Viewer  
  ABH04437 (Get FASTA)   NCBI Sequence Viewer  
  ABH04438 (Get FASTA)   NCBI Sequence Viewer  
  ABH04439 (Get FASTA)   NCBI Sequence Viewer  
  ABH04440 (Get FASTA)   NCBI Sequence Viewer  
  ABH04441 (Get FASTA)   NCBI Sequence Viewer  
  ABH04442 (Get FASTA)   NCBI Sequence Viewer  
  ABH04443 (Get FASTA)   NCBI Sequence Viewer  
  ABJ53424 (Get FASTA)   NCBI Sequence Viewer  
  ABM92358 (Get FASTA)   NCBI Sequence Viewer  
  ABW04992 (Get FASTA)   NCBI Sequence Viewer  
  ABW04993 (Get FASTA)   NCBI Sequence Viewer  
  ADR80227 (Get FASTA)   NCBI Sequence Viewer  
  AFO64626 (Get FASTA)   NCBI Sequence Viewer  
  AFO64627 (Get FASTA)   NCBI Sequence Viewer  
  AFO64628 (Get FASTA)   NCBI Sequence Viewer  
  AFO64629 (Get FASTA)   NCBI Sequence Viewer  
  AFO64630 (Get FASTA)   NCBI Sequence Viewer  
  AFO64631 (Get FASTA)   NCBI Sequence Viewer  
  AFO64632 (Get FASTA)   NCBI Sequence Viewer  
  AFO64633 (Get FASTA)   NCBI Sequence Viewer  
  AHA83530 (Get FASTA)   NCBI Sequence Viewer  
  CAA29547 (Get FASTA)   NCBI Sequence Viewer  
  CAA84542 (Get FASTA)   NCBI Sequence Viewer  
  CAA84543 (Get FASTA)   NCBI Sequence Viewer  
  EAL24174 (Get FASTA)   NCBI Sequence Viewer  
  EAL24175 (Get FASTA)   NCBI Sequence Viewer  
  EAL24176 (Get FASTA)   NCBI Sequence Viewer  
  EAW76944 (Get FASTA)   NCBI Sequence Viewer  
  EAW76945 (Get FASTA)   NCBI Sequence Viewer  
  EAW76946 (Get FASTA)   NCBI Sequence Viewer  
  EAW76947 (Get FASTA)   NCBI Sequence Viewer  
  EAW76948 (Get FASTA)   NCBI Sequence Viewer  
  EAW76949 (Get FASTA)   NCBI Sequence Viewer  
  EAW76950 (Get FASTA)   NCBI Sequence Viewer  
  EAW76951 (Get FASTA)   NCBI Sequence Viewer  
  EAW76952 (Get FASTA)   NCBI Sequence Viewer  
  P21439 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_061338   ⟸   NM_018850
- Peptide Label: isoform C
- UniProtKB: P21439 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000434   ⟸   NM_000443
- Peptide Label: isoform A
- UniProtKB: P21439 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_061337   ⟸   NM_018849
- Peptide Label: isoform B
- UniProtKB: P21439 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011514612   ⟸   XM_011516310
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011514614   ⟸   XM_011516312
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011514613   ⟸   XM_011516311
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011514610   ⟸   XM_011516308
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011514615   ⟸   XM_011516313
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011514611   ⟸   XM_011516309
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011514617   ⟸   XM_011516315
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016867812   ⟸   XM_017012323
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000352135   ⟸   ENST00000359206
RefSeq Acc Id: ENSP00000496956   ⟸   ENST00000649586
RefSeq Acc Id: ENSP00000392983   ⟸   ENST00000453593
RefSeq Acc Id: ENSP00000395716   ⟸   ENST00000440025
RefSeq Acc Id: ENSP00000394511   ⟸   ENST00000417608
RefSeq Acc Id: ENSP00000496629   ⟸   ENST00000643670
RefSeq Acc Id: ENSP00000493477   ⟸   ENST00000644106
RefSeq Acc Id: ENSP00000265723   ⟸   ENST00000265723
RefSeq Acc Id: ENSP00000351172   ⟸   ENST00000358400
Promoters
RGD ID:6805058
Promoter ID:HG_KWN:58433
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000265723,   ENST00000358400,   ENST00000359206,   OTTHUMT00000158259,   OTTHUMT00000345430
Position:
Human AssemblyChrPosition (strand)Source
Build 36786,942,849 - 86,943,349 (-)MPROMDB
RGD ID:7210975
Promoter ID:EPDNEW_H11233
Type:initiation region
Name:ABCB4_2
Description:ATP binding cassette subfamily B member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11234  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,475,493 - 87,475,553EPDNEW
RGD ID:7210977
Promoter ID:EPDNEW_H11234
Type:initiation region
Name:ABCB4_1
Description:ATP binding cassette subfamily B member 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11233  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38787,475,653 - 87,475,713EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000443.4(ABCB4):c.263C>G (p.Thr88Ser) single nucleotide variant not provided [RCV000731015] Chr7:87462781 [GRCh38]
Chr7:87092097 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3000T>C (p.Ala1000=) single nucleotide variant not provided [RCV000727978] Chr7:87409317 [GRCh38]
Chr7:87038633 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.207A>G (p.Ser69=) single nucleotide variant not provided [RCV000727983] Chr7:87462837 [GRCh38]
Chr7:87092153 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3280-1G>C single nucleotide variant not provided [RCV000729801] Chr7:87406495 [GRCh38]
Chr7:87035811 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs) duplication Cholestasis, progressive familial intrahepatic 1 [RCV000987904]|not provided [RCV000729803] Chr7:87402211..87402212 [GRCh38]
Chr7:87031527..87031528 [GRCh37]
Chr7:7q21.12
pathogenic|likely pathogenic
NM_000443.4(ABCB4):c.398T>C (p.Ile133Thr) single nucleotide variant not provided [RCV000728109] Chr7:87453082 [GRCh38]
Chr7:87082398 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu) single nucleotide variant Cholestasis, progressive familial intrahepatic 1 [RCV000987907]|not provided [RCV000728122] Chr7:87422220 [GRCh38]
Chr7:87051536 [GRCh37]
Chr7:7q21.12
likely pathogenic|uncertain significance
NM_000443.4(ABCB4):c.2289T>G (p.Ile763Met) single nucleotide variant not provided [RCV000728285] Chr7:87422148 [GRCh38]
Chr7:87051464 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2211G>A (p.Ala737=) single nucleotide variant not provided [RCV000729603] Chr7:87423906 [GRCh38]
Chr7:87053222 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.834-2A>G single nucleotide variant not provided [RCV000729604] Chr7:87447207 [GRCh38]
Chr7:87076523 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.370G>T (p.Gly124Cys) single nucleotide variant not provided [RCV000729196] Chr7:87453110 [GRCh38]
Chr7:87082426 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=) single nucleotide variant not provided [RCV000729199] Chr7:87439675 [GRCh38]
Chr7:87068991 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs) deletion Progressive familial intrahepatic cholestasis 3 [RCV000014682] Chr7:87453080..87453086 [GRCh38]
Chr7:87082396..87082402 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000033063]|Gallbladder disease 1 [RCV000778841]|Progressive familial intrahepatic cholestasis 3 [RCV000014683] Chr7:87411948 [GRCh38]
Chr7:87041264 [GRCh37]
Chr7:7q21.12
pathogenic|likely pathogenic
NM_000443.4(ABCB4):c.1712del (p.Val571fs) deletion Cholestasis, intrahepatic, of pregnancy 3 [RCV000033064]|Progressive familial intrahepatic cholestasis 3 [RCV000014685] Chr7:87439686 [GRCh38]
Chr7:87069002 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000014687]|not provided [RCV000728477] Chr7:87439761 [GRCh38]
Chr7:87069077 [GRCh37]
Chr7:7q21.12
pathogenic|uncertain significance
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000033065]|Gallbladder disease 1 [RCV000014688]|Progressive familial intrahepatic cholestasis 3 [RCV000190560]|not provided [RCV000498517] Chr7:87447080 [GRCh38]
Chr7:87076396 [GRCh37]
Chr7:7q21.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001165181]|Gallbladder disease 1 [RCV000014690]|Progressive familial intrahepatic cholestasis 3 [RCV001158467]|not provided [RCV000224371]|not specified [RCV000244656] Chr7:87452957 [GRCh38]
Chr7:87082273 [GRCh37]
Chr7:7q21.12
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) single nucleotide variant Gallbladder disease 1 [RCV000014691]|not provided [RCV000267429] Chr7:87406293 [GRCh38]
Chr7:87035609 [GRCh37]
Chr7:7q21.12
pathogenic|uncertain significance
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs) indel Cholestasis, intrahepatic, of pregnancy 3 [RCV000033066]|Gallbladder disease 1 [RCV000014692] Chr7:87443346..87443347 [GRCh38]
Chr7:87072662..87072663 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs) duplication Progressive familial intrahepatic cholestasis 3 [RCV000014693] Chr7:87423947..87423948 [GRCh38]
Chr7:87053263..87053264 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His) single nucleotide variant Progressive familial intrahepatic cholestasis 3 [RCV000014694] Chr7:87443686 [GRCh38]
Chr7:87073002 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000014695] Chr7:87453050 [GRCh38]
Chr7:87082366 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) single nucleotide variant ABCB4-related disorders [RCV000709935]|Cholestasis, intrahepatic, of pregnancy 3 [RCV000014696]|Cholestasis, progressive familial intrahepatic 1 [RCV000987909]|Gallbladder disease 1 [RCV000033067]|Progressive familial intrahepatic cholestasis 3 [RCV000662150]|not provided [RCV000723739]|not specified [RCV000249752] Chr7:87431528 [GRCh38]
Chr7:87060844 [GRCh37]
Chr7:7q21.12
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_018849.3(ABCB4):c.1633C>G (p.Arg545Gly) single nucleotide variant Gallbladder disease 1 [RCV000033068] Chr7:87439765 [GRCh38]
Chr7:87069081 [GRCh37]
Chr7:7q21.12
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q21.11-21.12(chr7:86669909-87492659)x3 copy number gain See cases [RCV000053465] Chr7:86669909..87492659 [GRCh38]
Chr7:86299225..87121975 [GRCh37]
Chr7:86137161..86959911 [NCBI36]
Chr7:7q21.11-21.12
uncertain significance
NM_018849.2(ABCB4):c.1374G>A (p.Gln458=) single nucleotide variant Malignant melanoma [RCV000067981] Chr7:87440385 [GRCh38]
Chr7:87069701 [GRCh37]
Chr7:86907637 [NCBI36]
Chr7:7q21.12
not provided
NM_018849.2(ABCB4):c.3046C>T (p.Leu1016=) single nucleotide variant Malignant melanoma [RCV000061692] Chr7:87409271 [GRCh38]
Chr7:87038587 [GRCh37]
Chr7:86876523 [NCBI36]
Chr7:7q21.12
not provided
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) single nucleotide variant Progressive familial intrahepatic cholestasis 3 [RCV000656338]|not provided [RCV000171407] Chr7:87411911 [GRCh38]
Chr7:87041227 [GRCh37]
Chr7:7q21.12
pathogenic|likely pathogenic|uncertain significance
NM_000443.4(ABCB4):c.2211+1G>A single nucleotide variant not provided [RCV000175138] Chr7:87423905 [GRCh38]
Chr7:87053221 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001160034]|Progressive familial intrahepatic cholestasis 3 [RCV001160035]|not provided [RCV000965756]|not specified [RCV000175398] Chr7:87420029 [GRCh38]
Chr7:87049345 [GRCh37]
Chr7:7q21.12
benign
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161562]|Progressive familial intrahepatic cholestasis 3 [RCV001161563]|not provided [RCV000961801]|not specified [RCV000174682] Chr7:87439814 [GRCh38]
Chr7:87069130 [GRCh37]
Chr7:7q21.12
benign
NM_000443.4(ABCB4):c.833+6G>A single nucleotide variant not provided [RCV000966197]|not specified [RCV000180162] Chr7:87449962 [GRCh38]
Chr7:87079278 [GRCh37]
Chr7:7q21.12
benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.504C>T (p.Asn168=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000346207]|Progressive familial intrahepatic cholestasis 3 [RCV000288953]|not specified [RCV000179313] Chr7:87452976 [GRCh38]
Chr7:87082292 [GRCh37]
Chr7:7q21.12
benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu) single nucleotide variant not provided [RCV000597550] Chr7:87423940 [GRCh38]
Chr7:87053256 [GRCh37]
Chr7:7q21.12
likely pathogenic|uncertain significance
GRCh38/hg38 7q21.12(chr7:87418490-87492600)x3 copy number gain See cases [RCV000139855] Chr7:87418490..87492600 [GRCh38]
Chr7:87047806..87121916 [GRCh37]
Chr7:86885742..86959852 [NCBI36]
Chr7:7q21.12
uncertain significance
GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1 copy number loss See cases [RCV000139869] Chr7:87379476..91731873 [GRCh38]
Chr7:87008792..91361188 [GRCh37]
Chr7:86846728..91199124 [NCBI36]
Chr7:7q21.12-21.2
likely pathogenic|uncertain significance
GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1 copy number loss See cases [RCV000143271] Chr7:84002634..95228883 [GRCh38]
Chr7:83631950..94858195 [GRCh37]
Chr7:83469886..94696131 [NCBI36]
Chr7:7q21.11-21.3
pathogenic
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) single nucleotide variant Gallbladder disease 1 [RCV000391687]|not provided [RCV000724891] Chr7:87462904 [GRCh38]
Chr7:87092220 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.438C>T (p.Ile146=) single nucleotide variant not provided [RCV000179314] Chr7:87453042 [GRCh38]
Chr7:87082358 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val) single nucleotide variant not specified [RCV000180161] Chr7:87450089 [GRCh38]
Chr7:87079405 [GRCh37]
Chr7:7q21.12
likely benign|uncertain significance
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) single nucleotide variant Cholestasis, progressive familial intrahepatic 1 [RCV000987920]|Progressive familial intrahepatic cholestasis 3 [RCV000764725]|not provided [RCV000177067] Chr7:87472655 [GRCh38]
Chr7:87101971 [GRCh37]
Chr7:7q21.12
benign|uncertain significance
NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003934]|not provided [RCV000176528] Chr7:87408086 [GRCh38]
Chr7:87037402 [GRCh37]
Chr7:7q21.12
likely pathogenic|uncertain significance
NM_000443.4(ABCB4):c.3608C>G (p.Ser1203Ter) single nucleotide variant not provided [RCV000263961] Chr7:87403160 [GRCh38]
Chr7:87032476 [GRCh37]
Chr7:7q21.12
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000365076]|Progressive familial intrahepatic cholestasis 3 [RCV000308195]|not provided [RCV000725183]|not specified [RCV000348300] Chr7:87409280 [GRCh38]
Chr7:87038596 [GRCh37]
Chr7:7q21.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000297587]|Progressive familial intrahepatic cholestasis 3 [RCV000268294]|not provided [RCV000592358] Chr7:87431513 [GRCh38]
Chr7:87060829 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2395-19C>T single nucleotide variant not specified [RCV000247002] Chr7:87418639 [GRCh38]
Chr7:87047955 [GRCh37]
Chr7:7q21.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.-1G>A single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000356528]|Progressive familial intrahepatic cholestasis 3 [RCV000299312]|not specified [RCV000249430] Chr7:87475466 [GRCh38]
Chr7:87104782 [GRCh37]
Chr7:7q21.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.459T>C (p.Phe153=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000283287]|Progressive familial intrahepatic cholestasis 3 [RCV000384691]|not provided [RCV000955374]|not specified [RCV000247269] Chr7:87453021 [GRCh38]
Chr7:87082337 [GRCh37]
Chr7:7q21.12
benign|likely benign
NM_000443.4(ABCB4):c.3487-16T>C single nucleotide variant not specified [RCV000242703] Chr7:87403297 [GRCh38]
Chr7:87032613 [GRCh37]
Chr7:7q21.12
benign
NM_000443.4(ABCB4):c.175C>T (p.Leu59=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000340525]|Progressive familial intrahepatic cholestasis 3 [RCV000400898]|not specified [RCV000245179] Chr7:87462869 [GRCh38]
Chr7:87092185 [GRCh37]
Chr7:7q21.12
benign
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000343693]|Progressive familial intrahepatic cholestasis 3 [RCV000677337]|not specified [RCV000245480] Chr7:87426860 [GRCh38]
Chr7:87056176 [GRCh37]
Chr7:7q21.12
benign
NM_000443.4(ABCB4):c.711A>T (p.Ile237=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000275204]|Progressive familial intrahepatic cholestasis 3 [RCV000385962]|not specified [RCV000247989] Chr7:87450090 [GRCh38]
Chr7:87079406 [GRCh37]
Chr7:7q21.12
benign|likely benign
NM_000443.4(ABCB4):c.2211+16C>T single nucleotide variant not specified [RCV000250441] Chr7:87423890 [GRCh38]
Chr7:87053206 [GRCh37]
Chr7:7q21.12
benign
NM_000443.4(ABCB4):c.1893+6T>C single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000347254]|Progressive familial intrahepatic cholestasis 3 [RCV000392524]|not provided [RCV000955182]|not specified [RCV000253080] Chr7:87431398 [GRCh38]
Chr7:87060714 [GRCh37]
Chr7:7q21.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) single nucleotide variant not provided [RCV000729873]|not specified [RCV000250728] Chr7:87406393 [GRCh38]
Chr7:87035709 [GRCh37]
Chr7:7q21.12
likely benign|uncertain significance
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000334281]|Progressive familial intrahepatic cholestasis 3 [RCV000305097]|not provided [RCV000955375]|not specified [RCV000253197] Chr7:87462897 [GRCh38]
Chr7:87092213 [GRCh37]
Chr7:7q21.12
benign|likely benign
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000359312]|Progressive familial intrahepatic cholestasis 3 [RCV000267319]|not provided [RCV000733560] Chr7:87423980 [GRCh38]
Chr7:87053296 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000381174]|Progressive familial intrahepatic cholestasis 3 [RCV000333564]|not provided [RCV000885190]|not specified [RCV000596572] Chr7:87451635 [GRCh38]
Chr7:87080951 [GRCh37]
Chr7:7q21.12
benign|likely benign|uncertain significance
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000371047]|Progressive familial intrahepatic cholestasis 3 [RCV000407788] Chr7:87408085 [GRCh38]
Chr7:87037401 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000324863]|Progressive familial intrahepatic cholestasis 3 [RCV000372534] Chr7:87426759 [GRCh38]
Chr7:87056075 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000350503]|Progressive familial intrahepatic cholestasis 3 [RCV000387701] Chr7:87426844 [GRCh38]
Chr7:87056160 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000320949]|Progressive familial intrahepatic cholestasis 3 [RCV000272765] Chr7:87417459 [GRCh38]
Chr7:87046775 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.-6-4T>C single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000312420]|Progressive familial intrahepatic cholestasis 3 [RCV000273705]|not specified [RCV000438451] Chr7:87475475 [GRCh38]
Chr7:87104791 [GRCh37]
Chr7:7q21.12
benign|likely benign
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000398504]|Progressive familial intrahepatic cholestasis 3 [RCV000308731]|not specified [RCV000611731] Chr7:87426876 [GRCh38]
Chr7:87056192 [GRCh37]
Chr7:7q21.12
benign|uncertain significance
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000375977]|Progressive familial intrahepatic cholestasis 3 [RCV000293192]|not provided [RCV000592342] Chr7:87426832 [GRCh38]
Chr7:87056148 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000261242]|Progressive familial intrahepatic cholestasis 3 [RCV000319059]|not provided [RCV000594388] Chr7:87426767 [GRCh38]
Chr7:87056083 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000314096]|Progressive familial intrahepatic cholestasis 3 [RCV000407779]|not provided [RCV000727090]|not specified [RCV000422791] Chr7:87406489 [GRCh38]
Chr7:87035805 [GRCh37]
Chr7:7q21.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000354817]|Progressive familial intrahepatic cholestasis 3 [RCV000319652] Chr7:87447112 [GRCh38]
Chr7:87076428 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3372C>T (p.Cys1124=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000338002]|Progressive familial intrahepatic cholestasis 3 [RCV000280580]|not provided [RCV000911158] Chr7:87406402 [GRCh38]
Chr7:87035718 [GRCh37]
Chr7:7q21.12
likely benign|uncertain significance
NM_000443.4(ABCB4):c.3811A>C (p.Ser1271Arg) single nucleotide variant not provided [RCV000373466] Chr7:87402125 [GRCh38]
Chr7:87031441 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1834G>A (p.Gly612Arg) single nucleotide variant not provided [RCV000374569] Chr7:87431463 [GRCh38]
Chr7:87060779 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3334C>G (p.Leu1112Val) single nucleotide variant not provided [RCV000340785] Chr7:87406440 [GRCh38]
Chr7:87035756 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1817G>T (p.Gly606Val) single nucleotide variant not provided [RCV000341164] Chr7:87431480 [GRCh38]
Chr7:87060796 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.911C>A (p.Ala304Asp) single nucleotide variant not provided [RCV000379042] Chr7:87447128 [GRCh38]
Chr7:87076444 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2191A>G (p.Ile731Val) single nucleotide variant not provided [RCV000345188] Chr7:87423926 [GRCh38]
Chr7:87053242 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2198C>T (p.Ser733Leu) single nucleotide variant not provided [RCV000379828] Chr7:87423919 [GRCh38]
Chr7:87053235 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3533G>T (p.Gly1178Val) single nucleotide variant not provided [RCV000346589] Chr7:87403235 [GRCh38]
Chr7:87032551 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.81-16A>G single nucleotide variant not specified [RCV000312515] Chr7:87472691 [GRCh38]
Chr7:87102007 [GRCh37]
Chr7:7q21.12
benign
NM_000443.4(ABCB4):c.3486+8dup duplication not specified [RCV000348201] Chr7:87406277..87406278 [GRCh38]
Chr7:87035593..87035594 [GRCh37]
Chr7:7q21.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.2833C>T (p.Gln945Ter) single nucleotide variant not provided [RCV000330346] Chr7:87411984 [GRCh38]
Chr7:87041300 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.2626A>T (p.Lys876Ter) single nucleotide variant not provided [RCV000335504] Chr7:87417368 [GRCh38]
Chr7:87046684 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003941]|Cholestasis, progressive familial intrahepatic 1 [RCV000987913]|not provided [RCV000427203] Chr7:87440230 [GRCh38]
Chr7:87069546 [GRCh37]
Chr7:7q21.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.303G>A (p.Ser101=) single nucleotide variant not provided [RCV000282427] Chr7:87454576 [GRCh38]
Chr7:87083892 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2708_2710del (p.Ile903del) deletion not provided [RCV000283390] Chr7:87413690..87413692 [GRCh38]
Chr7:87043006..87043008 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.717G>A (p.Ser239=) single nucleotide variant not provided [RCV000355779] Chr7:87450084 [GRCh38]
Chr7:87079400 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=) single nucleotide variant not provided [RCV000389317] Chr7:87440346 [GRCh38]
Chr7:87069662 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001164952]|Cholestasis, progressive familial intrahepatic 1 [RCV000987905]|Progressive familial intrahepatic cholestasis 3 [RCV001164953]|not provided [RCV000413855]|not specified [RCV000322710] Chr7:87412017 [GRCh38]
Chr7:87041333 [GRCh37]
Chr7:7q21.12
likely pathogenic|benign|uncertain significance
NM_000443.4(ABCB4):c.709A>T (p.Ile237Leu) single nucleotide variant not provided [RCV000322972] Chr7:87450092 [GRCh38]
Chr7:87079408 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1415T>C (p.Ile472Thr) single nucleotide variant not provided [RCV000394992] Chr7:87440344 [GRCh38]
Chr7:87069660 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2625G>A (p.Met875Ile) single nucleotide variant not provided [RCV000396353] Chr7:87417369 [GRCh38]
Chr7:87046685 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.-18G>T single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000277688]|Progressive familial intrahepatic cholestasis 3 [RCV000369391] Chr7:87475645 [GRCh38]
Chr7:87104961 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3436A>C (p.Ser1146Arg) single nucleotide variant not provided [RCV000326416] Chr7:87406338 [GRCh38]
Chr7:87035654 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161566]|Progressive familial intrahepatic cholestasis 3 [RCV001161565]|not provided [RCV000971217]|not specified [RCV000362178] Chr7:87443361 [GRCh38]
Chr7:87072677 [GRCh37]
Chr7:7q21.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_000443.4(ABCB4):c.2211+5G>A single nucleotide variant not provided [RCV000399467] Chr7:87423901 [GRCh38]
Chr7:87053217 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2625_2626delinsAT (p.Met875_Lys876delinsIleTer) indel not provided [RCV000394729] Chr7:87417368..87417369 [GRCh38]
Chr7:87046684..87046685 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=) single nucleotide variant not provided [RCV000260404] Chr7:87406297 [GRCh38]
Chr7:87035613 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.760G>A (p.Ala254Thr) single nucleotide variant not provided [RCV000262952] Chr7:87450041 [GRCh38]
Chr7:87079357 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.910G>T (p.Ala304Ser) single nucleotide variant not provided [RCV000294006] Chr7:87447129 [GRCh38]
Chr7:87076445 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3371G>A (p.Cys1124Tyr) single nucleotide variant not provided [RCV000363752] Chr7:87406403 [GRCh38]
Chr7:87035719 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1855_1857AAG[1] (p.Lys620del) microsatellite not provided [RCV000263254] Chr7:87431437..87431439 [GRCh38]
Chr7:87060753..87060755 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala) single nucleotide variant not provided [RCV000300240] Chr7:87423952 [GRCh38]
Chr7:87053268 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3013G>A (p.Ala1005Thr) single nucleotide variant not provided [RCV000404368] Chr7:87409304 [GRCh38]
Chr7:87038620 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.524C>T (p.Thr175Met) single nucleotide variant not provided [RCV000406075] Chr7:87452956 [GRCh38]
Chr7:87082272 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.240G>A (p.Glu80=) single nucleotide variant not provided [RCV000268204] Chr7:87462804 [GRCh38]
Chr7:87092120 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3838T>C (p.Ter1280Arg) single nucleotide variant not provided [RCV000726408] Chr7:87402098 [GRCh38]
Chr7:87031414 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3347C>G (p.Ser1116Cys) single nucleotide variant not provided [RCV000371451] Chr7:87406427 [GRCh38]
Chr7:87035743 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1472G>T (p.Cys491Phe) single nucleotide variant not provided [RCV000408077] Chr7:87440287 [GRCh38]
Chr7:87069603 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.577G>A (p.Gly193Arg) single nucleotide variant not provided [RCV000598188] Chr7:87451754 [GRCh38]
Chr7:87081070 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3469_3471del (p.Ile1157del) deletion not provided [RCV000598230] Chr7:87406303..87406305 [GRCh38]
Chr7:87035619..87035621 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_018849.3(ABCB4):c.1563A>G (p.Lys521=) single nucleotide variant not provided [RCV000489284] Chr7:87439835 [GRCh38]
Chr7:87069151 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1015del (p.Ser339fs) deletion not provided [RCV000594323] Chr7:87444966 [GRCh38]
Chr7:87074282 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.366A>G (p.Gly122=) single nucleotide variant not provided [RCV000594939] Chr7:87453114 [GRCh38]
Chr7:87082430 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter) single nucleotide variant not provided [RCV000595315] Chr7:87443749 [GRCh38]
Chr7:87073065 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=) single nucleotide variant not provided [RCV000596568] Chr7:87413670 [GRCh38]
Chr7:87042986 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3676T>G (p.Cys1226Gly) single nucleotide variant not provided [RCV000596869] Chr7:87402260 [GRCh38]
Chr7:87031576 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1858A>G (p.Lys620Glu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV000360654]|Progressive familial intrahepatic cholestasis 3 [RCV000303597] Chr7:87431439 [GRCh38]
Chr7:87060755 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1119+8A>C single nucleotide variant not provided [RCV000727293]|not specified [RCV000596954] Chr7:87444854 [GRCh38]
Chr7:87074170 [GRCh37]
Chr7:7q21.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.3280-9G>A single nucleotide variant not provided [RCV000597343] Chr7:87406503 [GRCh38]
Chr7:87035819 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.996T>C (p.Asn332=) single nucleotide variant not specified [RCV000600130] Chr7:87447043 [GRCh38]
Chr7:87076359 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.808G>C (p.Gly270Arg) single nucleotide variant not provided [RCV000593948] Chr7:87449993 [GRCh38]
Chr7:87079309 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.280T>C (p.Phe94Leu) single nucleotide variant not provided [RCV000596029] Chr7:87462764 [GRCh38]
Chr7:87092080 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=) single nucleotide variant not provided [RCV000598379] Chr7:87443442 [GRCh38]
Chr7:87072758 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1577T>G (p.Val526Gly) single nucleotide variant not provided [RCV000591695] Chr7:87439821 [GRCh38]
Chr7:87069137 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2212-5T>A single nucleotide variant not provided [RCV000592179] Chr7:87422230 [GRCh38]
Chr7:87051546 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1373A>C (p.Gln458Pro) single nucleotide variant not provided [RCV000592282] Chr7:87440386 [GRCh38]
Chr7:87069702 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2082_2088del (p.Val695fs) deletion not provided [RCV000730110] Chr7:87424029..87424035 [GRCh38]
Chr7:87053345..87053351 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1120-8T>A single nucleotide variant not provided [RCV000592497] Chr7:87443781 [GRCh38]
Chr7:87073097 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2905C>T (p.Arg969Cys) single nucleotide variant not provided [RCV000592816] Chr7:87411912 [GRCh38]
Chr7:87041228 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.101_102delinsAA (p.Thr34Lys) indel not specified [RCV000598624] Chr7:87472654..87472655 [GRCh38]
Chr7:87101970..87101971 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2065-3T>C single nucleotide variant not provided [RCV000597051] Chr7:87424055 [GRCh38]
Chr7:87053371 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro) single nucleotide variant not provided [RCV000592973] Chr7:87450022 [GRCh38]
Chr7:87079338 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1979C>T (p.Ser660Phe) single nucleotide variant not provided [RCV000593040] Chr7:87426835 [GRCh38]
Chr7:87056151 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1963C>G (p.Pro655Ala) single nucleotide variant not provided [RCV000593096] Chr7:87426851 [GRCh38]
Chr7:87056167 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3633+9G>A single nucleotide variant not provided [RCV000593149] Chr7:87403126 [GRCh38]
Chr7:87032442 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3633+1G>T single nucleotide variant not provided [RCV000593172] Chr7:87403134 [GRCh38]
Chr7:87032450 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=) single nucleotide variant not provided [RCV000593245] Chr7:87408205 [GRCh38]
Chr7:87037521 [GRCh37]
Chr7:7q21.12
conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.833G>A (p.Arg278Lys) single nucleotide variant not provided [RCV000598438] Chr7:87449968 [GRCh38]
Chr7:87079284 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1119T>C (p.Asn373=) single nucleotide variant not provided [RCV000596383] Chr7:87444862 [GRCh38]
Chr7:87074178 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3131C>T (p.Pro1044Leu) single nucleotide variant not provided [RCV000596966] Chr7:87408185 [GRCh38]
Chr7:87037501 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3451G>A (p.Ala1151Thr) single nucleotide variant not provided [RCV000593806] Chr7:87406323 [GRCh38]
Chr7:87035639 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2473C>T (p.Gln825Ter) single nucleotide variant not provided [RCV000591095] Chr7:87418542 [GRCh38]
Chr7:87047858 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.3664G>A (p.Glu1222Lys) single nucleotide variant not provided [RCV000591229] Chr7:87402272 [GRCh38]
Chr7:87031588 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3298G>A (p.Ala1100Thr) single nucleotide variant not provided [RCV000591612] Chr7:87406476 [GRCh38]
Chr7:87035792 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.80+5A>C single nucleotide variant not provided [RCV000730138] Chr7:87475381 [GRCh38]
Chr7:87104697 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp) single nucleotide variant not provided [RCV000414549] Chr7:87452954 [GRCh38]
Chr7:87082270 [GRCh37]
Chr7:7q21.12
likely pathogenic|uncertain significance
NM_000443.4(ABCB4):c.1501G>T (p.Glu501Ter) single nucleotide variant not provided [RCV000730205] Chr7:87440258 [GRCh38]
Chr7:87069574 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe) single nucleotide variant not provided [RCV000730545] Chr7:87440381 [GRCh38]
Chr7:87069697 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1651C>A (p.Pro551Thr) single nucleotide variant not provided [RCV000730590] Chr7:87439747 [GRCh38]
Chr7:87069063 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2581T>G (p.Leu861Val) single nucleotide variant not provided [RCV000595345] Chr7:87417413 [GRCh38]
Chr7:87046729 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=) single nucleotide variant not provided [RCV000730277] Chr7:87409284 [GRCh38]
Chr7:87038600 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2137G>T (p.Val713Leu) single nucleotide variant not provided [RCV000730320] Chr7:87423980 [GRCh38]
Chr7:87053296 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3565C>G (p.Leu1189Val) single nucleotide variant not provided [RCV000731950] Chr7:87403203 [GRCh38]
Chr7:87032519 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1063G>A (p.Asp355Asn) single nucleotide variant not provided [RCV000732029] Chr7:87444918 [GRCh38]
Chr7:87074234 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.179G>T (p.Gly60Val) single nucleotide variant not provided [RCV000732031] Chr7:87462865 [GRCh38]
Chr7:87092181 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr) single nucleotide variant Progressive familial intrahepatic cholestasis 3 [RCV001161564]|not provided [RCV000732990] Chr7:87440290 [GRCh38]
Chr7:87069606 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2435C>A (p.Ala812Glu) single nucleotide variant not provided [RCV000733756] Chr7:87418580 [GRCh38]
Chr7:87047896 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001159926]|Progressive familial intrahepatic cholestasis 3 [RCV001159927]|not provided [RCV000728466] Chr7:87406298 [GRCh38]
Chr7:87035614 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001165062]|Progressive familial intrahepatic cholestasis 3 [RCV001165061]|not provided [RCV000729573] Chr7:87426862 [GRCh38]
Chr7:87056178 [GRCh37]
Chr7:7q21.12
likely benign|uncertain significance
NM_000443.4(ABCB4):c.1821A>C (p.Val607=) single nucleotide variant not provided [RCV000841302]|not specified [RCV000729575] Chr7:87431476 [GRCh38]
Chr7:87060792 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=) single nucleotide variant not provided [RCV000729987] Chr7:87422142 [GRCh38]
Chr7:87051458 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.932C>A (p.Ser311Ter) single nucleotide variant not provided [RCV000731158] Chr7:87447107 [GRCh38]
Chr7:87076423 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=) single nucleotide variant not provided [RCV000732110] Chr7:87408058 [GRCh38]
Chr7:87037374 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2703A>G (p.Glu901=) single nucleotide variant not provided [RCV000733092] Chr7:87413697 [GRCh38]
Chr7:87043013 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3179A>C (p.Lys1060Thr) single nucleotide variant not provided [RCV000733097] Chr7:87408137 [GRCh38]
Chr7:87037453 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3250C>T (p.Arg1084Trp) single nucleotide variant not provided [RCV000733103] Chr7:87408066 [GRCh38]
Chr7:87037382 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln) single nucleotide variant Cholestasis, progressive familial intrahepatic 1 [RCV000987918]|not provided [RCV000734366] Chr7:87453049 [GRCh38]
Chr7:87082365 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2718_2720del (p.Val907del) deletion not provided [RCV000735091] Chr7:87413680..87413682 [GRCh38]
Chr7:87042996..87042998 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001158470]|Progressive familial intrahepatic cholestasis 3 [RCV000764724]|not provided [RCV000416002] Chr7:87462827 [GRCh38]
Chr7:87092143 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2011C>T (p.Leu671Phe) single nucleotide variant not provided [RCV000728479] Chr7:87426803 [GRCh38]
Chr7:87056119 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1864G>T (p.Gly622Trp) single nucleotide variant not provided [RCV000731391] Chr7:87431433 [GRCh38]
Chr7:87060749 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3431T>C (p.Ile1144Thr) single nucleotide variant not provided [RCV000733163] Chr7:87406343 [GRCh38]
Chr7:87035659 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=) single nucleotide variant not provided [RCV000733186] Chr7:87406363 [GRCh38]
Chr7:87035679 [GRCh37]
Chr7:7q21.12
conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.476G>A (p.Arg159Gln) single nucleotide variant not provided [RCV000733188] Chr7:87453004 [GRCh38]
Chr7:87082320 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3279+5G>A single nucleotide variant not provided [RCV000733219] Chr7:87408032 [GRCh38]
Chr7:87037348 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2687C>A (p.Ala896Glu) single nucleotide variant not provided [RCV000733221] Chr7:87413713 [GRCh38]
Chr7:87043029 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.979G>A (p.Glu327Lys) single nucleotide variant not provided [RCV000733224] Chr7:87447060 [GRCh38]
Chr7:87076376 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3081+1G>C single nucleotide variant not provided [RCV000594231] Chr7:87409235 [GRCh38]
Chr7:87038551 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.139C>T (p.Arg47Ter) single nucleotide variant not provided [RCV000594235] Chr7:87462905 [GRCh38]
Chr7:87092221 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001162879]|Progressive familial intrahepatic cholestasis 3 [RCV001161330]|not provided [RCV000734400] Chr7:87406478 [GRCh38]
Chr7:87035794 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2316+1G>A single nucleotide variant not provided [RCV000734442] Chr7:87422120 [GRCh38]
Chr7:87051436 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1481G>A (p.Arg494His) single nucleotide variant not provided [RCV000728643] Chr7:87440278 [GRCh38]
Chr7:87069594 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3299C>T (p.Ala1100Val) single nucleotide variant not provided [RCV000728788] Chr7:87406475 [GRCh38]
Chr7:87035791 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.345-2A>G single nucleotide variant not provided [RCV000730373] Chr7:87453137 [GRCh38]
Chr7:87082453 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.102G>T (p.Thr34=) single nucleotide variant not provided [RCV000731397] Chr7:87472654 [GRCh38]
Chr7:87101970 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1043G>C (p.Gly348Ala) single nucleotide variant not provided [RCV000731399] Chr7:87444938 [GRCh38]
Chr7:87074254 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3247G>A (p.Glu1083Lys) single nucleotide variant not provided [RCV000732289] Chr7:87408069 [GRCh38]
Chr7:87037385 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161326]|Progressive familial intrahepatic cholestasis 3 [RCV001161327]|not provided [RCV000734512] Chr7:87406372 [GRCh38]
Chr7:87035688 [GRCh37]
Chr7:7q21.12
conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.54G>A (p.Glu18=) single nucleotide variant not provided [RCV000734544] Chr7:87475412 [GRCh38]
Chr7:87104728 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2899C>T (p.His967Tyr) single nucleotide variant not provided [RCV000728922] Chr7:87411918 [GRCh38]
Chr7:87041234 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3577C>A (p.Pro1193Thr) single nucleotide variant not provided [RCV000728936] Chr7:87403191 [GRCh38]
Chr7:87032507 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=) single nucleotide variant not provided [RCV000732385] Chr7:87408072 [GRCh38]
Chr7:87037388 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.79A>G (p.Ser27Gly) single nucleotide variant not provided [RCV000732399] Chr7:87475387 [GRCh38]
Chr7:87104703 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.879del (p.Ala294fs) deletion not provided [RCV000733982] Chr7:87447160 [GRCh38]
Chr7:87076476 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.3434T>C (p.Val1145Ala) single nucleotide variant not provided [RCV000733986] Chr7:87406340 [GRCh38]
Chr7:87035656 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3337G>A (p.Gly1113Arg) single nucleotide variant not provided [RCV000734586] Chr7:87406437 [GRCh38]
Chr7:87035753 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.94A>T (p.Lys32Ter) single nucleotide variant not provided [RCV000734602] Chr7:87472662 [GRCh38]
Chr7:87101978 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.2699T>C (p.Ile900Thr) single nucleotide variant not provided [RCV000734603] Chr7:87413701 [GRCh38]
Chr7:87043017 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=) single nucleotide variant not provided [RCV000734629] Chr7:87412006 [GRCh38]
Chr7:87041322 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_018849.3(ABCB4):c.2932T>C (p.Ser978Pro) single nucleotide variant Gallbladder disease 1 [RCV000735791] Chr7:87409385 [GRCh38]
Chr7:87038701 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.2863T>G (p.Cys955Gly) single nucleotide variant not provided [RCV000733329] Chr7:87411954 [GRCh38]
Chr7:87041270 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1943del (p.Lys648fs) deletion not provided [RCV000733333] Chr7:87426871 [GRCh38]
Chr7:87056187 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.302C>T (p.Ser101Leu) single nucleotide variant not provided [RCV000734732] Chr7:87454577 [GRCh38]
Chr7:87083893 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3488A>T (p.Lys1163Ile) single nucleotide variant not provided [RCV000734768] Chr7:87403280 [GRCh38]
Chr7:87032596 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2936C>A (p.Ala979Glu) single nucleotide variant not provided [RCV000732526] Chr7:87409381 [GRCh38]
Chr7:87038697 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003563]|Cholestasis, progressive familial intrahepatic 1 [RCV000987917]|not provided [RCV000732592] Chr7:87453005 [GRCh38]
Chr7:87082321 [GRCh37]
Chr7:7q21.12
pathogenic|likely pathogenic
NM_000443.4(ABCB4):c.2828_2829delinsAT (p.Ile943Asn) indel not provided [RCV000734831] Chr7:87411988..87411989 [GRCh38]
Chr7:87041304..87041305 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2683-883_2783+345del deletion Cholestasis, intrahepatic, of pregnancy 3 [RCV001003855] Chr7:87413272..87414600 [GRCh38]
Chr7:87042588..87043916 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.2113A>G (p.Lys705Glu) single nucleotide variant not provided [RCV000732700] Chr7:87424004 [GRCh38]
Chr7:87053320 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2477G>A (p.Gly826Glu) single nucleotide variant not provided [RCV000734212] Chr7:87418538 [GRCh38]
Chr7:87047854 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2002C>T (p.Gln668Ter) single nucleotide variant not provided [RCV000729870] Chr7:87426812 [GRCh38]
Chr7:87056128 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1672G>A (p.Glu558Lys) single nucleotide variant not provided [RCV000729871] Chr7:87439726 [GRCh38]
Chr7:87069042 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.927T>G (p.Tyr309Ter) single nucleotide variant not provided [RCV000731675] Chr7:87447112 [GRCh38]
Chr7:87076428 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.3004C>T (p.Leu1002=) single nucleotide variant not provided [RCV000732788] Chr7:87409313 [GRCh38]
Chr7:87038629 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3268G>C (p.Ala1090Pro) single nucleotide variant not provided [RCV000732802] Chr7:87408048 [GRCh38]
Chr7:87037364 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3001A>G (p.Lys1001Glu) single nucleotide variant not provided [RCV000733666] Chr7:87409316 [GRCh38]
Chr7:87038632 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1635_1648delinsCCATTCAGG (p.Ala546fs) indel not provided [RCV000733668] Chr7:87439750..87439763 [GRCh38]
Chr7:87069066..87069079 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1646G>A (p.Arg549His) single nucleotide variant not provided [RCV000594945] Chr7:87439752 [GRCh38]
Chr7:87069068 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1553del (p.Leu518fs) deletion Cholestasis, progressive familial intrahepatic 1 [RCV000987912]|not provided [RCV000730742] Chr7:87440206 [GRCh38]
Chr7:87069522 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1603G>A (p.Gly535Ser) single nucleotide variant not provided [RCV000731776] Chr7:87439795 [GRCh38]
Chr7:87069111 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.609dup (p.Ala204fs) duplication not provided [RCV000732887] Chr7:87451721..87451722 [GRCh38]
Chr7:87081037..87081038 [GRCh37]
Chr7:7q21.12
pathogenic
NM_018849.3(ABCB4):c.1073C>A (p.Ala358Asp) single nucleotide variant not specified [RCV000413010] Chr7:87444908 [GRCh38]
Chr7:87074224 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1230+3A>G single nucleotide variant not provided [RCV000731835] Chr7:87443660 [GRCh38]
Chr7:87072976 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3415G>T (p.Val1139Leu) single nucleotide variant not provided [RCV000731924] Chr7:87406359 [GRCh38]
Chr7:87035675 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.174G>A (p.Ser58=) single nucleotide variant not provided [RCV000734923] Chr7:87462870 [GRCh38]
Chr7:87092186 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2316G>A (p.Gln772=) single nucleotide variant not provided [RCV000729250] Chr7:87422121 [GRCh38]
Chr7:87051437 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.377G>A (p.Gly126Glu) single nucleotide variant not provided [RCV000729253] Chr7:87453103 [GRCh38]
Chr7:87082419 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.536+9A>G single nucleotide variant not provided [RCV000729274] Chr7:87452935 [GRCh38]
Chr7:87082251 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1004C>G (p.Thr335Arg) single nucleotide variant not provided [RCV000730874] Chr7:87447035 [GRCh38]
Chr7:87076351 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1285G>A (p.Gly429Arg) single nucleotide variant not provided [RCV000734935] Chr7:87443390 [GRCh38]
Chr7:87072706 [GRCh37]
Chr7:7q21.12
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001159922]|Progressive familial intrahepatic cholestasis 3 [RCV001159923]|not specified [RCV000417701] Chr7:87403225 [GRCh38]
Chr7:87032541 [GRCh37]
Chr7:7q21.12
likely benign|uncertain significance
NM_000443.4(ABCB4):c.1560+16A>G single nucleotide variant not specified [RCV000437877] Chr7:87440183 [GRCh38]
Chr7:87069499 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161452]|Cholestasis, progressive familial intrahepatic 1 [RCV000987908]|Progressive familial intrahepatic cholestasis 3 [RCV001162981]|not provided [RCV000724634] Chr7:87423973 [GRCh38]
Chr7:87053289 [GRCh37]
Chr7:7q21.12
pathogenic|uncertain significance
NM_000443.4(ABCB4):c.1230+15A>G single nucleotide variant not specified [RCV000425274] Chr7:87443648 [GRCh38]
Chr7:87072964 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) single nucleotide variant not provided [RCV000726991]|not specified [RCV000425538] Chr7:87452955 [GRCh38]
Chr7:87082271 [GRCh37]
Chr7:7q21.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.2325G>C (p.Thr775=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161446]|Progressive familial intrahepatic cholestasis 3 [RCV001161447]|not provided [RCV000968614]|not specified [RCV000432934] Chr7:87420067 [GRCh38]
Chr7:87049383 [GRCh37]
Chr7:7q21.12
benign
NM_000443.4(ABCB4):c.2619T>G (p.Val873=) single nucleotide variant not specified [RCV000436451] Chr7:87417375 [GRCh38]
Chr7:87046691 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001164950]|Progressive familial intrahepatic cholestasis 3 [RCV001164951]|not provided [RCV000973411]|not specified [RCV000430020] Chr7:87409365 [GRCh38]
Chr7:87038681 [GRCh37]
Chr7:7q21.12
benign|likely benign
NM_000443.4(ABCB4):c.1231-16C>T single nucleotide variant not specified [RCV000430345] Chr7:87443460 [GRCh38]
Chr7:87072776 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.1357-17A>G single nucleotide variant not specified [RCV000423262] Chr7:87440419 [GRCh38]
Chr7:87069735 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.2394+13G>A single nucleotide variant not specified [RCV000430582] Chr7:87419985 [GRCh38]
Chr7:87049301 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.1143A>G (p.Ser381=) single nucleotide variant not specified [RCV000441042] Chr7:87443750 [GRCh38]
Chr7:87073066 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.456G>A (p.Lys152=) single nucleotide variant not provided [RCV000958947]|not specified [RCV000444846] Chr7:87453024 [GRCh38]
Chr7:87082340 [GRCh37]
Chr7:7q21.12
benign|likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000443.4(ABCB4):c.1313C>T (p.Thr438Met) single nucleotide variant not provided [RCV000596236] Chr7:87443362 [GRCh38]
Chr7:87072678 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3326G>A (p.Arg1109Lys) single nucleotide variant not provided [RCV000594854] Chr7:87406448 [GRCh38]
Chr7:87035764 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1006-2A>C single nucleotide variant not provided [RCV000596943] Chr7:87444977 [GRCh38]
Chr7:87074293 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.602C>T (p.Thr201Met) single nucleotide variant not provided [RCV000595281] Chr7:87451729 [GRCh38]
Chr7:87081045 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1895C>T (p.Thr632Ile) single nucleotide variant not provided [RCV000595815] Chr7:87426919 [GRCh38]
Chr7:87056235 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val) single nucleotide variant not provided [RCV000595866] Chr7:87420074 [GRCh38]
Chr7:87049390 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.100dup (p.Thr34fs) duplication not provided [RCV000595139] Chr7:87472655..87472656 [GRCh38]
Chr7:87101971..87101972 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.2446del (p.Arg816fs) deletion not provided [RCV000595404] Chr7:87418569 [GRCh38]
Chr7:87047885 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.2395-3T>C single nucleotide variant not provided [RCV000596344] Chr7:87418623 [GRCh38]
Chr7:87047939 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3149C>T (p.Pro1050Leu) single nucleotide variant not provided [RCV000597326] Chr7:87408167 [GRCh38]
Chr7:87037483 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.928G>A (p.Ala310Thr) single nucleotide variant not provided [RCV000597514] Chr7:87447111 [GRCh38]
Chr7:87076427 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3486+1G>A single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003932]|not provided [RCV000594775] Chr7:87406287 [GRCh38]
Chr7:87035603 [GRCh37]
Chr7:7q21.12
pathogenic|likely pathogenic
NM_000443.4(ABCB4):c.201C>T (p.His67=) single nucleotide variant not provided [RCV000728280]|not specified [RCV000613674] Chr7:87462843 [GRCh38]
Chr7:87092159 [GRCh37]
Chr7:7q21.12
likely benign|uncertain significance
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=) single nucleotide variant not provided [RCV000595269] Chr7:87402120 [GRCh38]
Chr7:87031436 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=) single nucleotide variant not provided [RCV000732741]|not specified [RCV000610911] Chr7:87406303 [GRCh38]
Chr7:87035619 [GRCh37]
Chr7:7q21.12
likely benign|uncertain significance
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=) single nucleotide variant not provided [RCV000732149]|not specified [RCV000613777] Chr7:87420067 [GRCh38]
Chr7:87049383 [GRCh37]
Chr7:7q21.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000443.4(ABCB4):c.536+11T>C single nucleotide variant not specified [RCV000609018] Chr7:87452933 [GRCh38]
Chr7:87082249 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.2586A>G (p.Ala862=) single nucleotide variant not specified [RCV000614637] Chr7:87417408 [GRCh38]
Chr7:87046724 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.807C>T (p.Phe269=) single nucleotide variant not specified [RCV000603520] Chr7:87449994 [GRCh38]
Chr7:87079310 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.3336C>T (p.Leu1112=) single nucleotide variant not provided [RCV000916799]|not specified [RCV000605345] Chr7:87406438 [GRCh38]
Chr7:87035754 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.3280-24T>C single nucleotide variant not specified [RCV000599714] Chr7:87406518 [GRCh38]
Chr7:87035834 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.1006-1G>T single nucleotide variant not provided [RCV000596499] Chr7:87444976 [GRCh38]
Chr7:87074292 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1356+10A>G single nucleotide variant not provided [RCV000597591] Chr7:87443309 [GRCh38]
Chr7:87072625 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3227G>A (p.Ser1076Asn) single nucleotide variant not provided [RCV000595531] Chr7:87408089 [GRCh38]
Chr7:87037405 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1060A>G (p.Ile354Val) single nucleotide variant not provided [RCV000597788] Chr7:87444921 [GRCh38]
Chr7:87074237 [GRCh37]
Chr7:7q21.12
uncertain significance
Single allele deletion not provided [RCV000677988] Chr7:73591993..93683437 [GRCh37]
Chr7:7q11.23-21.3
uncertain significance
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003936]|Gallbladder disease 1 [RCV000714671]|Progressive familial intrahepatic cholestasis 3 [RCV000714670]|not provided [RCV000728119] Chr7:87408180 [GRCh38]
Chr7:87037496 [GRCh37]
Chr7:7q21.12
pathogenic|likely pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Speech-language disorder 1 [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
NM_000443.4(ABCB4):c.3434dup (p.Ser1146fs) duplication Cholestasis, intrahepatic, of pregnancy 3 [RCV001003933] Chr7:87406339..87406340 [GRCh38]
Chr7:87035655..87035656 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.3224A>T (p.Lys1075Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003935] Chr7:87408092 [GRCh38]
Chr7:87037408 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.2556C>A (p.Tyr852Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003938] Chr7:87417438 [GRCh38]
Chr7:87046754 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003939] Chr7:87431496 [GRCh38]
Chr7:87060812 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs) duplication Cholestasis, intrahepatic, of pregnancy 3 [RCV001003944] Chr7:87444965..87444966 [GRCh38]
Chr7:87074281..87074282 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.652del (p.Leu218_Val219insTer) deletion Cholestasis, intrahepatic, of pregnancy 3 [RCV001003562] Chr7:87451679 [GRCh38]
Chr7:87080995 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.2044del (p.Asp682fs) deletion Cholestasis, intrahepatic, of pregnancy 3 [RCV000754567] Chr7:87426770 [GRCh38]
Chr7:87056086 [GRCh37]
Chr7:7q21.12
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala) single nucleotide variant Cholestasis, progressive familial intrahepatic 1 [RCV000987915] Chr7:87443683 [GRCh38]
Chr7:87072999 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.344+4A>G single nucleotide variant Cholestasis, progressive familial intrahepatic 1 [RCV000987919] Chr7:87454531 [GRCh38]
Chr7:87083847 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic 1 [RCV000987911] Chr7:87439684 [GRCh38]
Chr7:87069000 [GRCh37]
Chr7:7q21.12
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001164834]|Progressive familial intrahepatic cholestasis 3 [RCV001164833] Chr7:87403180 [GRCh38]
Chr7:87032496 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3077del (p.Lys1026fs) deletion Progressive familial intrahepatic cholestasis 3 [RCV000790393] Chr7:87409240 [GRCh38]
Chr7:87038556 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1119+5G>A single nucleotide variant Cholestasis, progressive familial intrahepatic 1 [RCV000987916] Chr7:87444857 [GRCh38]
Chr7:87074173 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001159921]|Progressive familial intrahepatic cholestasis 3 [RCV001164835] Chr7:87403215 [GRCh38]
Chr7:87032531 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2784-12T>C single nucleotide variant Cholestasis, progressive familial intrahepatic 1 [RCV000987906] Chr7:87412045 [GRCh38]
Chr7:87041361 [GRCh37]
Chr7:7q21.12
pathogenic|likely pathogenic
NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003564] Chr7:87453031 [GRCh38]
Chr7:87082347 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001163094]|Progressive familial intrahepatic cholestasis 3 [RCV001161569] Chr7:87443398 [GRCh38]
Chr7:87072714 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter) single nucleotide variant Familial intrahepatic cholestasis type 3 [RCV001250141] Chr7:87431514 [GRCh38]
Chr7:87060830 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter) single nucleotide variant Familial intrahepatic cholestasis type 3 [RCV001250142] Chr7:87447165 [GRCh38]
Chr7:87076481 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln) single nucleotide variant Cholestasis, progressive familial intrahepatic 1 [RCV000987910] Chr7:87431552 [GRCh38]
Chr7:87060868 [GRCh37]
Chr7:7q21.12
pathogenic
NM_000443.4(ABCB4):c.2161A>C (p.Asn721His) single nucleotide variant Secundum atrial septal defect [RCV001198580] Chr7:87423956 [GRCh38]
Chr7:87053272 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001164831]|Progressive familial intrahepatic cholestasis 3 [RCV001164832] Chr7:87402241 [GRCh38]
Chr7:87031557 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1283T>A (p.Val428Asp) single nucleotide variant not provided [RCV001090896] Chr7:87443392 [GRCh38]
Chr7:87072708 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=) single nucleotide variant not provided [RCV001090895] Chr7:87420052 [GRCh38]
Chr7:87049368 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001165180]|Progressive familial intrahepatic cholestasis 3 [RCV001165179] Chr7:87451634 [GRCh38]
Chr7:87080950 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001159928]|Progressive familial intrahepatic cholestasis 3 [RCV001161325] Chr7:87406365 [GRCh38]
Chr7:87035681 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161448] Chr7:87420068 [GRCh38]
Chr7:87049384 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.12G>T (p.Glu4Asp) single nucleotide variant not provided [RCV000979245] Chr7:87475454 [GRCh38]
Chr7:87104770 [GRCh37]
Chr7:7q21.12
likely benign
NM_000443.4(ABCB4):c.1005+3A>G single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001163097]|Progressive familial intrahepatic cholestasis 3 [RCV001163098] Chr7:87447031 [GRCh38]
Chr7:87076347 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001159924]|Progressive familial intrahepatic cholestasis 3 [RCV001159925] Chr7:87403264 [GRCh38]
Chr7:87032580 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2478+7A>T single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001160032]|Progressive familial intrahepatic cholestasis 3 [RCV001160033] Chr7:87418530 [GRCh38]
Chr7:87047846 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001160036]|Progressive familial intrahepatic cholestasis 3 [RCV001161445] Chr7:87420052 [GRCh38]
Chr7:87049368 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg) single nucleotide variant Cholestasis, progressive familial intrahepatic 1 [RCV000987914] Chr7:87443353 [GRCh38]
Chr7:87072669 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161449]|Progressive familial intrahepatic cholestasis 3 [RCV001161450] Chr7:87422195 [GRCh38]
Chr7:87051511 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2212A>C (p.Ile738Leu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161451] Chr7:87422225 [GRCh38]
Chr7:87051541 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.147C>A (p.Ser49=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161675]|Progressive familial intrahepatic cholestasis 3 [RCV001161676] Chr7:87462897 [GRCh38]
Chr7:87092213 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.905G>A (p.Gly302Asp) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003559] Chr7:87447134 [GRCh38]
Chr7:87076450 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001162880]|Progressive familial intrahepatic cholestasis 3 [RCV001162881] Chr7:87408172 [GRCh38]
Chr7:87037488 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001163095]|Progressive familial intrahepatic cholestasis 3 [RCV001163096] Chr7:87444926 [GRCh38]
Chr7:87074242 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001165178]|Progressive familial intrahepatic cholestasis 3 [RCV001163099] Chr7:87449996 [GRCh38]
Chr7:87079312 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001158468]|Progressive familial intrahepatic cholestasis 3 [RCV001158469] Chr7:87452969 [GRCh38]
Chr7:87082285 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.893del (p.Asn298fs) deletion Cholestasis, intrahepatic, of pregnancy 3 [RCV001003560] Chr7:87447146 [GRCh38]
Chr7:87076462 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.1357-2A>C single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003942] Chr7:87440404 [GRCh38]
Chr7:87069720 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161328]|Progressive familial intrahepatic cholestasis 3 [RCV001161329] Chr7:87406466 [GRCh38]
Chr7:87035782 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161568]|Progressive familial intrahepatic cholestasis 3 [RCV001161567] Chr7:87443394 [GRCh38]
Chr7:87072710 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.1119+1G>T single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003943] Chr7:87444861 [GRCh38]
Chr7:87074177 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.834-1G>A single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003561] Chr7:87447206 [GRCh38]
Chr7:87076522 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003931] Chr7:87403233 [GRCh38]
Chr7:87032549 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001164955]|Progressive familial intrahepatic cholestasis 3 [RCV001164954] Chr7:87417403 [GRCh38]
Chr7:87046719 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001160031]|Progressive familial intrahepatic cholestasis 3 [RCV001164956] Chr7:87417404 [GRCh38]
Chr7:87046720 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2880_2881AT[1] (p.Tyr961fs) microsatellite Cholestasis, intrahepatic, of pregnancy 3 [RCV001003937] Chr7:87411934..87411935 [GRCh38]
Chr7:87041250..87041251 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001003940] Chr7:87431519 [GRCh38]
Chr7:87060835 [GRCh37]
Chr7:7q21.12
likely pathogenic
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu) single nucleotide variant Cholestasis, intrahepatic, of pregnancy 3 [RCV001161678]|Progressive familial intrahepatic cholestasis 3 [RCV001161677] Chr7:87472647 [GRCh38]
Chr7:87101963 [GRCh37]
Chr7:7q21.12
uncertain significance
GRCh37/hg19 7q21.12(chr7:86907024-87154688)x1 copy number loss not provided [RCV001258805] Chr7:86907024..87154688 [GRCh37]
Chr7:7q21.12
likely pathogenic
GRCh37/hg19 7q21.12(chr7:86833114-87553208)x3 copy number gain not provided [RCV001258806] Chr7:86833114..87553208 [GRCh37]
Chr7:7q21.12
uncertain significance
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys) single nucleotide variant Progressive familial intrahepatic cholestasis 3 [RCV001261587] Chr7:87413708 [GRCh38]
Chr7:87043024 [GRCh37]
Chr7:7q21.12
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:45 AgrOrtholog
COSMIC ABCB4 COSMIC
Ensembl Genes ENSG00000005471 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265723 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000351172 UniProtKB/Swiss-Prot
  ENSP00000352135 UniProtKB/Swiss-Prot
  ENSP00000392983 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000394511 UniProtKB/TrEMBL
  ENSP00000395716 UniProtKB/TrEMBL
  ENSP00000493477 UniProtKB/TrEMBL
  ENSP00000496629 UniProtKB/TrEMBL
  ENSP00000496956 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000265723 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000358400 UniProtKB/Swiss-Prot
  ENST00000359206 UniProtKB/Swiss-Prot
  ENST00000417608 UniProtKB/TrEMBL
  ENST00000440025 UniProtKB/TrEMBL
  ENST00000453593 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000643670 UniProtKB/TrEMBL
  ENST00000644106 UniProtKB/TrEMBL
  ENST00000649586 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.1560.10 UniProtKB/TrEMBL
GTEx ENSG00000005471 GTEx
HGNC ID HGNC:45 ENTREZGENE
Human Proteome Map ABCB4 Human Proteome Map
InterPro AAA+_ATPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC1_TM_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_transporter_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MDR1 UniProtKB/TrEMBL
  MDR3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Type_I_exporter UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5244 UniProtKB/Swiss-Prot
NCBI Gene 5244 ENTREZGENE
OMIM 171060 OMIM
  600803 OMIM
  602347 OMIM
  614972 OMIM
PANTHER PTHR24221 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24221:SF241 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24221:SF251 UniProtKB/TrEMBL
Pfam ABC_membrane UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_tran UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ABCB4 RGD, PharmGKB
PROSITE ABC_TM1F UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ABC_TRANSPORTER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART AAA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF90123 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.654403 ENTREZGENE
UniProt A0A2R8Y291_HUMAN UniProtKB/TrEMBL
  A0A2R8Y8A1_HUMAN UniProtKB/TrEMBL
  A7J1Q3_HUMAN UniProtKB/TrEMBL
  A7J1Q4_HUMAN UniProtKB/TrEMBL
  A7J1Q5_HUMAN UniProtKB/TrEMBL
  A7J1Q6_HUMAN UniProtKB/TrEMBL
  A7J1Q7_HUMAN UniProtKB/TrEMBL
  A7J1Q8_HUMAN UniProtKB/TrEMBL
  A7J1Q9_HUMAN UniProtKB/TrEMBL
  A7J1R0_HUMAN UniProtKB/TrEMBL
  A7J1R1_HUMAN UniProtKB/TrEMBL
  A7J1R2_HUMAN UniProtKB/TrEMBL
  A7J1R3_HUMAN UniProtKB/TrEMBL
  A7J1R4_HUMAN UniProtKB/TrEMBL
  A7J1R5_HUMAN UniProtKB/TrEMBL
  A7J1R6_HUMAN UniProtKB/TrEMBL
  A7J1R7_HUMAN UniProtKB/TrEMBL
  A7J1R8_HUMAN UniProtKB/TrEMBL
  A7J1R9_HUMAN UniProtKB/TrEMBL
  A7J1S0_HUMAN UniProtKB/TrEMBL
  A7J1S1_HUMAN UniProtKB/TrEMBL
  A7J1S2_HUMAN UniProtKB/TrEMBL
  A7J1S3_HUMAN UniProtKB/TrEMBL
  A7J1S4_HUMAN UniProtKB/TrEMBL
  A7J1S5_HUMAN UniProtKB/TrEMBL
  A7K6Y6_HUMAN UniProtKB/TrEMBL
  A8HT68_HUMAN UniProtKB/TrEMBL
  A8HT72_HUMAN UniProtKB/TrEMBL
  E5LR39_HUMAN UniProtKB/TrEMBL
  E7EQI1_HUMAN UniProtKB/TrEMBL
  H7C0M2_HUMAN UniProtKB/TrEMBL
  MDR3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4G0Q4_HUMAN UniProtKB/TrEMBL
  Q6PJ81_HUMAN UniProtKB/TrEMBL
  Q75MQ5_HUMAN UniProtKB/TrEMBL
  V5N6U4_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0A2V7 UniProtKB/Swiss-Prot
  A4D1D3 UniProtKB/Swiss-Prot
  A4D1D4 UniProtKB/Swiss-Prot
  A4D1D5 UniProtKB/Swiss-Prot
  D6W5P3 UniProtKB/Swiss-Prot
  D6W5P4 UniProtKB/Swiss-Prot
  Q14813 UniProtKB/Swiss-Prot


No