RGD:156098753 Rat Genome Database

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Variant: RGD:156098753 -  Homo sapiens

RGD ID: 156098753
ClinVar ID: CV2087888
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CD40  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 44,750,898
GRCh38 20 46,122,259
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001250.6:c.157G>T
NM_001302753.2:c.157G>T
NM_001322421.2:c.157G>T
NM_001322422.2:c.157G>T
More... 		07/21/2023 non-coding transcript variant pathogenic|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CD40
Accession:NM_001250
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCT*FTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEK
CHPWTSCETKDLVVQQAGTNKTDVVCGPQDRLRALVVIPIIFGILFAILLVLVFIKKVAKKPTNKAPHPKQEPQEINFPD
DLPGSNTAAPVQETLHGCQPVTQEDGKESRISVQERQ*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCT*FTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIGPQDRLRALVVIPIIFGILFAILLVL
VFISESSEKVAKKPTNKAPHPKQEPQEINFPDDLPGSNTAAPVQETLHGCQPVTQEDGKESRISVQERQ*

Gene Symbol:CD40
Accession:NM_001322422
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCT*FTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIGPQDRLRALVVIPIIFGILFAILLVL
VFIKKVAKKPTNKAPHPKQEPQEINFPDDLPGSNTAAPVQETLHGCQPVTQEDGKESRISVQERQ*

Gene Symbol:CD40
Accession:XM_011529109
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCT*FTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIAVRPKTWLCNRQAQTRLMLSVVSPGQ
WALEKA*

Gene Symbol:CD40
Accession:XM_017028136
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCT*FTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEK
CHPWTRSPGSAESPGGDPHHLRDPVCHPLGAGLYQWPRSQPIRPPTPSRNPRRSIFPTIFLAPTLLLQCRRLYMDANRSP
RRMAKRVASQCRRDSEAAPTQECGHVGKQAVGQRAWCCCCCGVRVRGWH*

Gene Symbol:CD40
Accession:NM_001362758
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCT*FTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEK
CHPWTSCETKDLVVQQAGTNKTDVVCGPQDRLRALVVIPIIFGILFAILLVLVFISGQEANQ*

Gene Symbol:CD40
Accession:NM_152854
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCT*FTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEK
CHPWTRSPGSAESPGGDPHHLRDPVCHPLGAGLYQKGGQEANQ*

Gene Symbol:CD40
Accession:XM_017028135
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCT*FTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEK
CHPWTSCETKDLVVQQAGTNKTDVVCGESWTMGPGESLGRSPGSAESPGGDPHHLRDPVCHPLGAGLYQWPRSQPIRPPT
PSRNPRRSIFPTIFLAPTLLLQCRRLYMDANRSPRRMAKRVASQCRRDSEAAPTQECGHVGKQAVGQRAWCCCCCGVRVR
GWH*

Gene Symbol:CD40
Accession:NM_001322421
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCT*FTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEK
CHPWTSCETKDLVVQQAGTNKTDVVCGPQDRLRALVVIPIIFGILFAILLVLVFISESSEKVAKKPTNKAPHPKQEPQEI
NFPDDLPGSNTAAPVQETLHGCQPVTQEDGKESRISVQERQ*

Gene Symbol:CD40
Accession:NM_001424339
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCT*FTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIGPQDRLRALVVIPIIFGILFAILLVL
VFISESSEKVAKKPTNKAPHPKQEPQEINFPDDLPGSNTAAPVQETLHGCQPVTQEDGKESRISVQERQ*

Gene Symbol:CD40
Accession:NM_001302753
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRLPLQCVLWGCLLTAVHPEPPTACREKQYLINSQCCSLCQPGQKLVSDCT*FTETECLPCGESEFLDTWNRETHCHQH
KYCDPNLGLRVQQKGTSETDTICTCEEGWHCTSEACESCVLHRSCSPGFGVKQIATGVSDTICEPCPVGFFSNVSSAFEK
CHPWTSCETKDLVVQQAGTNKTDVVCGESWTMGPGESLGRSPGSAESPGGDPHHLRDPVCHPLGAGLYQKGGQEANQ*

Gene Symbol:CD40
Accession:NR_126502
Location:EXON;NON-CODING

Gene Symbol:CD40
Accession:NR_136327
Location:EXON;NON-CODING

Gene Symbol:CD40
Accession:XM_047440601
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:20702779   PMID:24122029   PMID:28492532   PMID:35729272  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002848000 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CD40 CLINVAR
OMIM 109535 CLINVAR