CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit) - Rat Genome Database

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Gene: CHRNA4 (cholinergic receptor nicotinic alpha 4 subunit) Homo sapiens
Analyze
Symbol: CHRNA4
Name: cholinergic receptor nicotinic alpha 4 subunit
RGD ID: 10356
HGNC Page HGNC
Description: Enables acetylcholine receptor activity and acetylcholine-gated cation-selective channel activity. Involved in several processes, including DNA repair; behavioral response to nicotine; and response to hypoxia. Part of acetylcholine-gated channel complex. Implicated in autosomal dominant nocturnal frontal lobe epilepsy 1 and nicotine dependence. Biomarker of Alzheimer's disease and Lewy body dementia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acetylcholine receptor, nicotinic, alpha 4 (neuronal); BFNC; cholinergic receptor, nicotinic alpha 4; cholinergic receptor, nicotinic, alpha 4 (neuronal); cholinergic receptor, nicotinic, alpha polypeptide 4; EBN; EBN1; FLJ95812; NACHR; NACHRA4; NACRA4; neuronal acetylcholine receptor subunit alpha-4; neuronal nicotinic acetylcholine receptor alpha-4 subunit
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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 Ensembl2063,343,223 - 63,378,401 (-)EnsemblGRCh38hg38GRCh38
GRCh382063,343,223 - 63,375,471 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372061,974,575 - 61,992,701 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362061,445,109 - 61,463,192 (-)NCBINCBI36hg18NCBI36
Build 342061,446,464 - 61,463,192NCBI
Celera2058,652,104 - 58,670,128 (-)NCBI
Cytogenetic Map20q13.33NCBI
HuRef2058,700,254 - 58,717,202 (-)NCBIHuRef
CHM1_12061,875,694 - 61,893,903 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-lobeline  (EXP)
(S)-anabasine  (ISO)
(S)-nicotine  (EXP,ISO)
1,1-dichloroethene  (ISO)
1,1-dimethyl-4-phenylpiperazinium iodide  (EXP)
1,2-dichloroethane  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
13-desmethylspirolide C  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
2,2',4,4'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-nonylphenol  (EXP)
4-octylphenol  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamiprid  (ISO)
acetylcholine  (EXP,ISO)
acrylamide  (ISO)
alcuronium  (EXP)
aldicarb  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (ISO)
aluminium hydroxide  (EXP)
Amaranth  (ISO)
ammonium chloride  (ISO)
Antimony trioxide  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
atracurium  (EXP)
atropine  (EXP,ISO)
barium(0)  (ISO)
bendiocarb  (ISO)
bentonite  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Brilliant Blue  (ISO)
butan-1-ol  (EXP)
calcium atom  (ISO)
calcium(0)  (ISO)
carbachol  (EXP,ISO)
carbamazepine  (EXP)
carbaryl  (ISO)
carbon nanotube  (ISO)
chloroethene  (ISO)
choline  (EXP,ISO)
cisatracurium  (EXP)
Citreoviridin  (ISO)
clothianidin  (EXP)
cocaine  (ISO)
cytisine  (EXP,ISO)
decabromodiphenyl ether  (EXP)
decamethonium  (EXP)
diazinon  (ISO)
dichlorine  (ISO)
dichloroacetic acid  (ISO)
dichlorvos  (EXP)
dieldrin  (ISO)
diethyl maleate  (EXP)
diethylstilbestrol  (EXP)
dihydro-beta-erythroidine  (EXP,ISO)
dioxygen  (ISO)
elemental selenium  (EXP)
epibatidine  (EXP,ISO)
EPTC  (ISO)
ethanol  (ISO)
fenoxycarb  (ISO)
galanthamine  (EXP)
galanthamine Trifluoroacetic acid  (EXP)
genistein  (ISO)
hexachlorophene  (ISO)
Hexamethonium  (EXP,ISO)
imidacloprid  (EXP,ISO)
indigo carmine  (ISO)
magnesium dihydroxide  (EXP)
Mecamylamine  (EXP,ISO)
mercury dichloride  (ISO)
methoxychlor  (ISO)
methyllycaconitine  (EXP,ISO)
Mivacurium  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (ISO)
nicotine  (EXP,ISO)
nitrofen  (ISO)
NS-398  (ISO)
ozone  (ISO)
pancuronium  (EXP)
paracetamol  (ISO)
paraoxon  (ISO)
phenobarbital  (ISO)
physostigmine  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
propoxur  (ISO)
pyrazines  (EXP)
pyridines  (EXP)
resveratrol  (EXP)
rivastigmine  (EXP)
rocuronium  (EXP)
scopolamine  (EXP)
selenium atom  (EXP)
silicon dioxide  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
succinylcholine  (EXP)
Sunset Yellow FCF  (ISO)
T-2 toxin  (ISO)
tacrine  (EXP,ISO)
tamoxifen  (EXP)
tartrazine  (ISO)
tetrachloroethene  (EXP,ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
toluene  (EXP,ISO)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
tropan-3alpha-yl 3-hydroxy-2-phenylpropanoate  (EXP,ISO)
tubocurarine  (EXP,ISO)
tunicamycin  (EXP)
urethane  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
varenicline  (EXP,ISO)
vecuronium bromide  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
acetylcholine signaling pathway via nicotinic acetylcholine receptor  (TAS)
alfentanil pharmacodynamics pathway  (EXP)
bupivacaine pharmacodynamics pathway  (EXP)
buprenorphine pharmacodynamics pathway  (EXP)
chloroprocaine pharmacodynamics pathway  (EXP)
citalopram pharmacodynamics pathway  (EXP)
cocaine pharmacodynamics pathway  (EXP)
codeine and morphine pharmacodynamics pathway  (EXP)
desipramine pharmacodynamics pathway  (EXP)
diphenoxylate pharmacodynamics pathway  (EXP)
escitalopram pharmacodynamics pathway  (EXP)
ethylmorphine pharmacodynamics pathway  (EXP)
fentanyl pharmacodynamics pathway  (EXP)
fluoxetine pharmacodynamics pathway  (EXP)
heroin pharmacodynamics pathway  (EXP)
hydrocodone pharmacodynamics pathway  (EXP)
hydromorphone pharmacodynamics pathway  (EXP)
imipramine pharmacodynamics pathway  (EXP)
levacetylmethadol pharmacodynamics pathway  (EXP)
levobupivacaine phgarmacodynamics pathway  (EXP)
levorphanol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
mepivacaine pharmacodynamics pathway  (EXP)
methadone pharmacodynamics pathway  (EXP)
nalbuphine pharmacodynamics pathway  (EXP)
naloxone pharmacodynamics pathway  (EXP)
naltrexone pharmacodynamics pathway  (EXP)
nicotine pharmacodynamics pathway  (EXP)
nicotine pharmacokinetics pathway  (EXP)
oxybuprocaine pharmacodynamics pathway  (EXP)
oxycodone pharmacodynamics pathway  (EXP)
oxymorphone pharmacodynamics pathway  (EXP)
pentazocine pharmacodynamics pathway  (EXP)
prilocaine pharmacodynamics pathway  (EXP)
procaine pharmacodynamics pathway  (EXP)
remifentanil pharmacodynamics pathway  (EXP)
ropivacaine pharmacodynamics pathway  (EXP)
tramadol pharmacodynamics pathway  (EXP)

References

Additional References at PubMed
PMID:1492743   PMID:1505988   PMID:2351675   PMID:7550350   PMID:7647781   PMID:7721089   PMID:7806245   PMID:8833159   PMID:8889548   PMID:8906617   PMID:8987816   PMID:9009220  
PMID:10563623   PMID:11261808   PMID:11352901   PMID:11409698   PMID:11771745   PMID:11780052   PMID:12121305   PMID:12185808   PMID:12189247   PMID:12202488   PMID:12214130   PMID:12477932  
PMID:12556914   PMID:12565129   PMID:12663058   PMID:12681012   PMID:12781587   PMID:12782394   PMID:12887442   PMID:12887446   PMID:14623738   PMID:15046869   PMID:15154117   PMID:15717291  
PMID:15790597   PMID:15902904   PMID:15944128   PMID:16023355   PMID:16091357   PMID:16174636   PMID:16183856   PMID:16205844   PMID:16238698   PMID:16332175   PMID:16344560   PMID:16407231  
PMID:16456787   PMID:16608406   PMID:16636791   PMID:16825297   PMID:16869227   PMID:17226798   PMID:17373692   PMID:17385675   PMID:17488453   PMID:17504247   PMID:17559419   PMID:17590520  
PMID:17613539   PMID:17768273   PMID:17948872   PMID:17955458   PMID:17977823   PMID:17981562   PMID:18042647   PMID:18043764   PMID:18226955   PMID:18298895   PMID:18534558   PMID:18691652  
PMID:18762859   PMID:18821565   PMID:18937294   PMID:18991851   PMID:19016604   PMID:19020039   PMID:19058789   PMID:19058950   PMID:19059502   PMID:19063970   PMID:19101612   PMID:19156168  
PMID:19259974   PMID:19290018   PMID:19300482   PMID:19336370   PMID:19352218   PMID:19429020   PMID:19482438   PMID:19484724   PMID:19498063   PMID:19506906   PMID:19577488   PMID:19620239  
PMID:19628475   PMID:19693267   PMID:19698703   PMID:19803686   PMID:19874574   PMID:19896235   PMID:20189461   PMID:20201926   PMID:20231857   PMID:20301348   PMID:20331911   PMID:20438829  
PMID:20493238   PMID:20584212   PMID:20634891   PMID:20649589   PMID:20734064   PMID:20736995   PMID:20881005   PMID:20943775   PMID:21130611   PMID:21203548   PMID:21252231   PMID:21321393  
PMID:21343288   PMID:21396349   PMID:21432576   PMID:21445957   PMID:21451042   PMID:21500914   PMID:21593077   PMID:21683344   PMID:21740768   PMID:21753767   PMID:21757735   PMID:21821135  
PMID:21873635   PMID:21900206   PMID:22008229   PMID:22103306   PMID:22118295   PMID:22119468   PMID:22253823   PMID:22359659   PMID:22373960   PMID:22553201   PMID:22722381   PMID:22760121  
PMID:22873564   PMID:22947540   PMID:23000369   PMID:23037950   PMID:23240931   PMID:23349463   PMID:23350800   PMID:23429692   PMID:23437071   PMID:23553665   PMID:23720086   PMID:23731290  
PMID:23734673   PMID:23843950   PMID:24327142   PMID:24385388   PMID:24428733   PMID:24498031   PMID:24850280   PMID:24982426   PMID:25282705   PMID:25639542   PMID:25729002   PMID:25869137  
PMID:25934188   PMID:26125703   PMID:26440539   PMID:26598620   PMID:26612384   PMID:26644472   PMID:26684647   PMID:26801076   PMID:26858154   PMID:26952864   PMID:26982087   PMID:27054571  
PMID:27109789   PMID:27123786   PMID:27277673   PMID:27344019   PMID:27445102   PMID:27565302   PMID:27645992   PMID:27698419   PMID:27721068   PMID:27895161   PMID:28446611   PMID:28469204  
PMID:28582665   PMID:28600847   PMID:28877969   PMID:29240768   PMID:29720657   PMID:31130483   PMID:31402126   PMID:31813155   PMID:31821848   PMID:32342646   PMID:32472188   PMID:32814053  


Genomics

Comparative Map Data
CHRNA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2063,343,223 - 63,378,401 (-)EnsemblGRCh38hg38GRCh38
GRCh382063,343,223 - 63,375,471 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372061,974,575 - 61,992,701 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362061,445,109 - 61,463,192 (-)NCBINCBI36hg18NCBI36
Build 342061,446,464 - 61,463,192NCBI
Celera2058,652,104 - 58,670,128 (-)NCBI
Cytogenetic Map20q13.33NCBI
HuRef2058,700,254 - 58,717,202 (-)NCBIHuRef
CHM1_12061,875,694 - 61,893,903 (-)NCBICHM1_1
Chrna4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392180,664,104 - 180,685,365 (-)NCBIGRCm39mm39
GRCm39 Ensembl2180,660,173 - 180,685,339 (-)Ensembl
GRCm382181,022,311 - 181,043,579 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2181,018,380 - 181,043,546 (-)EnsemblGRCm38mm10GRCm38
MGSCv372180,757,016 - 180,773,882 (-)NCBIGRCm37mm9NCBIm37
MGSCv362180,951,719 - 180,968,585 (-)NCBImm8
Celera2185,108,778 - 185,125,645 (-)NCBICelera
Cytogenetic Map2H4NCBI
cM Map2103.54NCBI
Chrna4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23168,136,246 - 168,157,839 (-)NCBI
Rnor_6.0 Ensembl3176,527,516 - 176,548,208 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.03176,533,182 - 176,547,965 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.03180,243,234 - 180,258,017 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43170,171,214 - 170,185,998 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13170,077,249 - 170,092,033 (-)NCBI
Celera3164,428,976 - 164,443,759 (+)NCBICelera
RH 3.4 Map31531.39RGD
RH 3.4 Map31564.7RGD
Cytogenetic Map3q43NCBI
Chrna4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955528825,308 - 841,270 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955528825,314 - 840,994 (+)NCBIChiLan1.0ChiLan1.0
CHRNA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12061,267,958 - 61,284,640 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2061,270,631 - 61,283,005 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02059,730,759 - 59,748,678 (-)NCBIMhudiblu_PPA_v0panPan3
CHRNA4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12447,024,948 - 47,036,507 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2447,025,187 - 47,042,266 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2446,208,582 - 46,223,310 (-)NCBI
ROS_Cfam_1.02447,978,552 - 47,993,300 (-)NCBI
UMICH_Zoey_3.12446,993,833 - 47,005,225 (-)NCBI
UNSW_CanFamBas_1.02447,118,082 - 47,132,739 (-)NCBI
UU_Cfam_GSD_1.02447,874,247 - 47,888,996 (-)NCBI
Chrna4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640195,227,250 - 195,242,216 (-)NCBI
SpeTri2.0NW_00493651410,680,893 - 10,695,859 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHRNA4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1762,420,546 - 62,436,165 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11762,424,672 - 62,436,646 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CHRNA4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12851,790 - 862,685 (+)NCBI
Vero_WHO_p1.0NW_02366605048,462,591 - 48,480,754 (+)NCBI
Chrna4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474129,024,668 - 29,039,684 (-)NCBI

Position Markers
D20S127E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,976,386 - 61,976,515UniSTSGRCh37
Build 362061,446,830 - 61,446,959RGDNCBI36
Celera2058,653,825 - 58,653,954RGD
Cytogenetic Map20q13.2-q13.3UniSTS
HuRef2058,701,978 - 58,702,107UniSTS
GeneMap99-G3 RH Map202846.0UniSTS
RH64135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,976,381 - 61,976,493UniSTSGRCh37
Build 362061,446,825 - 61,446,937RGDNCBI36
Celera2058,653,820 - 58,653,932RGD
Cytogenetic Map20q13.2-q13.3UniSTS
HuRef2058,701,973 - 58,702,085UniSTS
RH75305  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,975,789 - 61,975,968UniSTSGRCh37
Build 362061,446,233 - 61,446,412RGDNCBI36
Celera2058,653,228 - 58,653,407RGD
Cytogenetic Map20q13.2-q13.3UniSTS
HuRef2058,701,381 - 58,701,560UniSTS
RH78607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,974,825 - 61,974,966UniSTSGRCh37
Build 362061,445,269 - 61,445,410RGDNCBI36
Celera2058,652,264 - 58,652,405RGD
Cytogenetic Map20q13.2-q13.3UniSTS
HuRef2058,700,417 - 58,700,558UniSTS
RH12050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,975,502 - 61,975,626UniSTSGRCh37
Build 362061,445,946 - 61,446,070RGDNCBI36
Celera2058,652,941 - 58,653,065RGD
Cytogenetic Map20q13.2-q13.3UniSTS
HuRef2058,701,094 - 58,701,218UniSTS
RH70691  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,976,688 - 61,976,843UniSTSGRCh37
Build 362061,447,132 - 61,447,287RGDNCBI36
Celera2058,654,127 - 58,654,282RGD
Cytogenetic Map20q13.2-q13.3UniSTS
HuRef2058,702,280 - 58,702,435UniSTS
CHRNA4_1625  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372061,976,384 - 61,977,245UniSTSGRCh37
Build 362061,446,828 - 61,447,689RGDNCBI36
Celera2058,653,823 - 58,654,684RGD
HuRef2058,701,976 - 58,702,837UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3262
Count of miRNA genes:1085
Interacting mature miRNAs:1347
Transcripts:ENST00000370263, ENST00000463705, ENST00000467563, ENST00000475033, ENST00000480012, ENST00000498043
Prediction methods:Microtar, Miranda, Rnahybrid
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
High
Medium 216 206 4 206 1 295 6 1 3
Low 13 3 802 143 151 142 193 9 2712 124 480 425 3 1 4 29
Below cutoff 1994 2229 623 199 842 57 3482 1932 626 89 743 927 143 924 2376

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK296430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY786507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY816234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY857197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY857198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY857199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY878243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY878244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY956338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY956339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY956340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY956341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY956342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY956345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY956346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY956347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM710937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA530118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ093071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L35901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X87629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X89746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370263   ⟹   ENSP00000359285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,343,223 - 63,361,349 (-)Ensembl
RefSeq Acc Id: ENST00000463705
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,344,069 - 63,377,993 (-)Ensembl
RefSeq Acc Id: ENST00000467563
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,346,594 - 63,361,304 (-)Ensembl
RefSeq Acc Id: ENST00000475033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,370,753 - 63,378,137 (-)Ensembl
RefSeq Acc Id: ENST00000480012
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,374,421 - 63,378,401 (-)Ensembl
RefSeq Acc Id: ENST00000498043   ⟹   ENSP00000429513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,346,594 - 63,359,699 (-)Ensembl
RefSeq Acc Id: ENST00000615287   ⟹   ENSP00000483388
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,343,310 - 63,361,396 (-)Ensembl
RefSeq Acc Id: ENST00000626188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,359,399 - 63,359,839 (-)Ensembl
RefSeq Acc Id: ENST00000627000   ⟹   ENSP00000486914
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,346,594 - 63,361,304 (-)Ensembl
RefSeq Acc Id: ENST00000627869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,355,643 - 63,356,138 (-)Ensembl
RefSeq Acc Id: ENST00000628606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,360,983 - 63,361,165 (-)Ensembl
RefSeq Acc Id: ENST00000628665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,350,908 - 63,361,190 (-)Ensembl
RefSeq Acc Id: ENST00000630240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,349,529 - 63,351,131 (-)Ensembl
RefSeq Acc Id: ENST00000631289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,346,096 - 63,346,935 (-)Ensembl
RefSeq Acc Id: ENST00000636481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,356,449 - 63,359,583 (-)Ensembl
RefSeq Acc Id: ENST00000636652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,354,656 - 63,356,070 (-)Ensembl
RefSeq Acc Id: ENST00000636726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,356,538 - 63,359,580 (-)Ensembl
RefSeq Acc Id: ENST00000637243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,350,977 - 63,354,566 (-)Ensembl
RefSeq Acc Id: ENST00000637443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,359,657 - 63,360,136 (-)Ensembl
RefSeq Acc Id: ENST00000637628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,355,377 - 63,356,041 (-)Ensembl
RefSeq Acc Id: ENST00000675470   ⟹   ENSP00000502096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2063,356,371 - 63,365,339 (-)Ensembl
RefSeq Acc Id: NM_000744   ⟹   NP_000735
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,343,223 - 63,361,349 (-)NCBI
GRCh372061,974,662 - 62,009,487 (-)NCBI
Build 362061,445,109 - 61,463,192 (-)NCBI Archive
HuRef2058,700,254 - 58,717,202 (-)NCBI
CHM1_12061,875,694 - 61,893,903 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001256573   ⟹   NP_001243502
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,343,223 - 63,361,349 (-)NCBI
GRCh372061,974,662 - 62,009,487 (-)NCBI
HuRef2058,700,254 - 58,717,202 (-)NCBI
CHM1_12061,875,694 - 61,893,903 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046317
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,343,223 - 63,361,349 (-)NCBI
GRCh372061,974,662 - 62,009,487 (-)NCBI
HuRef2058,700,254 - 58,717,202 (-)NCBI
CHM1_12061,875,694 - 61,893,903 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528524   ⟹   XP_011526826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,344,071 - 63,356,418 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027625   ⟹   XP_016883114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,344,071 - 63,375,471 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451822   ⟹   XP_024307590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,344,071 - 63,354,620 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000735   ⟸   NM_000744
- Peptide Label: isoform 1 precursor
- UniProtKB: P43681 (UniProtKB/Swiss-Prot),   B4DK78 (UniProtKB/TrEMBL),   Q59FV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243502   ⟸   NM_001256573
- Peptide Label: isoform 2
- UniProtKB: P43681 (UniProtKB/Swiss-Prot),   B4DK78 (UniProtKB/TrEMBL),   Q4VAQ3 (UniProtKB/TrEMBL),   Q59FV0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526826   ⟸   XM_011528524
- Peptide Label: isoform X1
- UniProtKB: P43681 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016883114   ⟸   XM_017027625
- Peptide Label: isoform X2
- UniProtKB: Q4VAQ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307590   ⟸   XM_024451822
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000359285   ⟸   ENST00000370263
RefSeq Acc Id: ENSP00000486914   ⟸   ENST00000627000
RefSeq Acc Id: ENSP00000483388   ⟸   ENST00000615287
RefSeq Acc Id: ENSP00000429513   ⟸   ENST00000498043
RefSeq Acc Id: ENSP00000502096   ⟸   ENST00000675470
Protein Domains
Neur_chan_LBD   Neur_chan_memb

Promoters
RGD ID:13602380
Promoter ID:EPDNEW_H27374
Type:initiation region
Name:CHRNA4_2
Description:cholinergic receptor nicotinic alpha 4 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27375  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,361,302 - 63,361,362EPDNEW
RGD ID:13602382
Promoter ID:EPDNEW_H27375
Type:initiation region
Name:CHRNA4_1
Description:cholinergic receptor nicotinic alpha 4 subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27374  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382063,361,433 - 63,361,493EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000744.7(CHRNA4):c.1075A>T (p.Lys359Ter) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000559027] Chr20:63350336 [GRCh38]
Chr20:61981688 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_000744.7(CHRNA4):c.1412T>C (p.Met471Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000551599] Chr20:63349999 [GRCh38]
Chr20:61981351 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_000744.7(CHRNA4):c.1178dup (p.Ala394fs) duplication Autosomal dominant nocturnal frontal lobe epilepsy [RCV000557986] Chr20:63350232..63350233 [GRCh38]
Chr20:61981584..61981585 [GRCh37]
Chr20:20q13.33
uncertain significance
CHRNA4, 3-BP INS, 776GCT insertion Epilepsy, nocturnal frontal lobe, type 1 [RCV000019051] Chr20:20q13.2-q13.3 pathogenic
CHRNA4, EX5, C-T single nucleotide variant Nicotine addiction, protection against [RCV000019053] Chr20:20q13.2-q13.3 protective
CHRNA4, EX5, G-A single nucleotide variant Nicotine addiction, protection against [RCV000019054] Chr20:20q13.2-q13.3 protective
NM_000744.7(CHRNA4):c.1697G>A (p.Arg566Gln) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000559906] Chr20:63349714 [GRCh38]
Chr20:61981066 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_000744.7(CHRNA4):c.211G>A (p.Ala71Thr) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000549537] Chr20:63359565 [GRCh38]
Chr20:61990917 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_000744.7(CHRNA4):c.1527C>T (p.Ala509=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000553736] Chr20:63349884 [GRCh38]
Chr20:61981236 [GRCh37]
Chr20:20q13.33
likely benign
NM_000744.7(CHRNA4):c.38_52dup (p.Pro13_Leu17dup) duplication Autosomal dominant nocturnal frontal lobe epilepsy [RCV000704051]|not specified [RCV000518397] Chr20:63361113..63361114 [GRCh38]
Chr20:61992465..61992466 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_000744.7(CHRNA4):c.180C>G (p.Asp60Glu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000534619] Chr20:63359596 [GRCh38]
Chr20:61990948 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_000744.7(CHRNA4):c.17C>T (p.Pro6Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000560700] Chr20:63361149 [GRCh38]
Chr20:61992501 [GRCh37]
Chr20:20q13.33
likely benign|uncertain significance
NM_000744.7(CHRNA4):c.839C>T (p.Ser280Phe) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001206285]|Epilepsy, nocturnal frontal lobe, type 1 [RCV000019050]|not provided [RCV000487099] Chr20:63350572 [GRCh38]
Chr20:61981924 [GRCh37]
Chr20:20q13.33
pathogenic
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000692832]|Epilepsy, nocturnal frontal lobe, type 1 [RCV000019052]|Seizures [RCV000720920]|not provided [RCV000186931] Chr20:63350560 [GRCh38]
Chr20:61981912 [GRCh37]
Chr20:20q13.33
pathogenic|likely pathogenic
NM_000744.6(CHRNA4):c.*3099G>T single nucleotide variant Lung cancer [RCV000101735] Chr20:63343639 [GRCh38]
Chr20:61974991 [GRCh37]
Chr20:20q13.33
uncertain significance
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000462397]|Epilepsy, nocturnal frontal lobe, type 1 [RCV000033926] Chr20:63350404 [GRCh38]
Chr20:61981756 [GRCh37]
Chr20:20q13.33
pathogenic|uncertain significance
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup) microsatellite Epilepsy, nocturnal frontal lobe, type 1 [RCV000033927] Chr20:63350538..63350539 [GRCh38]
Chr20:61981890..61981891 [GRCh37]
Chr20:20q13.33
pathogenic
NM_000744.7(CHRNA4):c.878C>T (p.Thr293Ile) single nucleotide variant Epilepsy, nocturnal frontal lobe, type 1 [RCV000033928] Chr20:63350533 [GRCh38]
Chr20:61981885 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 copy number gain Global developmental delay [RCV000051131]|See cases [RCV000051131] Chr20:63199020..64277321 [GRCh38]
Chr20:61830372..62908674 [GRCh37]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:62455231-63839491)x1 copy number loss See cases [RCV000052768] Chr20:62455231..63839491 [GRCh38]
Chr20:61030287..62470844 [GRCh37]
Chr20:60463682..61941288 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:62545370-64241486)x1 copy number loss See cases [RCV000052769] Chr20:62545370..64241486 [GRCh38]
Chr20:61142577..62872839 [GRCh37]
Chr20:60553022..62343283 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.33(chr20:63095686-63524980)x1 copy number loss See cases [RCV000052771] Chr20:63095686..63524980 [GRCh38]
Chr20:61727038..62156333 [GRCh37]
Chr20:61197483..61626777 [NCBI36]
Chr20:20q13.33
pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33
pathogenic
NM_000744.6(CHRNA4):c.1773G>A (p.Trp591Ter) single nucleotide variant Malignant melanoma [RCV000072752] Chr20:63346849 [GRCh38]
Chr20:61978201 [GRCh37]
Chr20:61448645 [NCBI36]
Chr20:20q13.33
not provided
NM_000744.7(CHRNA4):c.1082C>T (p.Pro361Leu) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001215154] Chr20:63350329 [GRCh38]
Chr20:61981681 [GRCh37]
Chr20:61452125 [NCBI36]
Chr20:20q13.33
uncertain significance|not provided
NM_000744.6(CHRNA4):c.885C>T (p.Ile295=) single nucleotide variant Malignant melanoma [RCV000072754] Chr20:63350526 [GRCh38]
Chr20:61981878 [GRCh37]
Chr20:61452322 [NCBI36]
Chr20:20q13.33
not provided
NM_000744.7(CHRNA4):c.963C>T (p.Ile321=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000866128]|Tobacco use disorder [RCV000084632] Chr20:63350448 [GRCh38]
Chr20:61981800 [GRCh37]
Chr20:61452244 [NCBI36]
Chr20:20q13.33
likely benign|not provided
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001082699]|Seizures [RCV000717014]|not provided [RCV000116721]|not specified [RCV000186613] Chr20:63361142 [GRCh38]
Chr20:61992494 [GRCh37]
Chr20:20q13.33
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001520744]|Epilepsy, nocturnal frontal lobe, type 1 [RCV000576630]|Seizures [RCV000715239]|not specified [RCV000079310] Chr20:63350202 [GRCh38]
Chr20:61981554 [GRCh37]
Chr20:20q13.33
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001520743]|Epilepsy, nocturnal frontal lobe, type 1 [RCV000576823]|Seizures [RCV000715284]|not specified [RCV000079311] Chr20:63350184 [GRCh38]
Chr20:61981536 [GRCh37]
Chr20:20q13.33
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV000475854]|Seizures [RCV000716628]|not specified [RCV000079312] Chr20:63350010 [GRCh38]
Chr20:61981362 [GRCh37]
Chr20:20q13.33
benign|likely benign
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001517150]|Nicotine addiction, protection against [RCV000019053]|Seizures [RCV000715285]|not provided [RCV000576445]|not specified [RCV000079313] Chr20:63349782 [GRCh38]
Chr20:61981134 [GRCh37]
Chr20:20q13.33
benign|conflicting interpretations of pathogenicity|protective|conflicting data from submitters
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001521000]|Nicotine addiction, protection against [RCV000019054]|Seizures [RCV000715303]|not provided [RCV000576716]|not specified [RCV000079314] Chr20:63349752 [GRCh38]
Chr20:61981104 [GRCh37]
Chr20:20q13.33
benign|conflicting interpretations of pathogenicity|protective|conflicting data from submitters
NM_000744.6(CHRNA4):c.1758+14A>G single nucleotide variant Epilepsy, nocturnal frontal lobe, type 1 [RCV000615210]|not specified [RCV000079315] Chr20:63349639 [GRCh38]
Chr20:61980991 [GRCh37]
Chr20:20q13.33
benign
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) single nucleotide variant Autosomal dominant nocturnal frontal lobe epilepsy [RCV001511256]|Epi