Canonical Allele Identifier: CA255248
Gene: GJB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10438
ClinVar RCV Id: RCV000011183
dbSNP Id: rs104894819

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71223901A>G , CM000685.2:g.71223901A>G GRCh38
NC_000023.10:g.70443751A>G , CM000685.1:g.70443751A>G GRCh37
NC_000023.9:g.70360476A>G NCBI36
NG_008357.1:g.13690A>G , LRG_245:g.13690A>G

Transcript Alleles

HGVS Amino-acid change
NM_000166.5:c.194A>G VV NP_000157.1:p.Tyr65Cys
NM_001097642.2:c.194A>G , LRG_245t1:c.194A>G NP_001091111.1:p.Tyr65Cys
XM_011530907.1:c.194A>G XP_011529209.1:p.Tyr65Cys
XM_011530907.2:c.194A>G
ENST00000361726.6:c.194A>G ENSP00000354900.6:p.Tyr65Cys
ENST00000374022.3:c.194A>G ENSP00000363134.3:p.Tyr65Cys
ENST00000374029.1:c.194A>G ENSP00000363141.1:p.Tyr65Cys
ENST00000447581.1:c.194A>G ENSP00000407223.1:p.Tyr65Cys