Canonical Allele Identifier: CA330997860
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1763074
ClinVar RCV Id: RCV002434734
dbSNP Id: rs374321066
gnomAD v2: X-70444392-C-T
gnomAD v4: X-71224542-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71224542C>T , CM000685.2:g.71224542C>T GRCh38
NC_000023.10:g.70444392C>T , CM000685.1:g.70444392C>T GRCh37
NC_000023.9:g.70361117C>T NCBI36
NG_008357.1:g.14331C>T , LRG_245:g.14331C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361726.7:c.835C>T MANE Select ENSP00000354900.6:p.Arg279Cys
ENST00000374029.2:c.835C>T ENSP00000363141.1:p.Arg279Cys
ENST00000447581.2:c.835C>T ENSP00000407223.2:p.Arg279Cys
ENST00000645009.2:c.835C>T ENSP00000494142.2:p.Arg279Cys
ENST00000646835.1:c.835C>T ENSP00000494596.1:p.Arg279Cys
ENST00000647424.1:c.835C>T ENSP00000495960.1:p.Arg279Cys
ENST00000674549.1:c.835C>T ENSP00000502766.1:p.Arg279Cys
ENST00000674844.1:c.835C>T ENSP00000502556.1:p.Arg279Cys
ENST00000675209.1:c.835C>T ENSP00000501813.1:p.Arg279Cys
ENST00000675368.1:c.835C>T ENSP00000501757.1:p.Arg279Cys
ENST00000675609.1:c.835C>T ENSP00000501571.1:p.Arg279Cys
ENST00000361726.6:c.835C>T ENSP00000354900.6:p.Arg279Cys
ENST00000374022.3:c.835C>T ENSP00000363134.3:p.Arg279Cys
ENST00000374029.1:c.835C>T ENSP00000363141.1:p.Arg279Cys
NM_000166.5:c.835C>T NP_000157.1:p.Arg279Cys
NM_001097642.2:c.835C>T , LRG_245t1:c.835C>T NP_001091111.1:p.Arg279Cys
XM_011530907.1:c.835C>T XP_011529209.1:p.Arg279Cys
XM_011530907.2:c.835C>T XP_011529209.1:p.Arg279Cys
NM_000166.6:c.835C>T MANE Select NP_000157.1:p.Arg279Cys
NM_001097642.3:c.835C>T NP_001091111.1:p.Arg279Cys