Canonical Allele Identifier: CA255254
Gene: GJB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10441
dbSNP Id: rs104894821

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71223990G>A , CM000685.2:g.71223990G>A GRCh38
NC_000023.10:g.70443840G>A , CM000685.1:g.70443840G>A GRCh37
NC_000023.9:g.70360565G>A NCBI36
NG_008357.1:g.13779G>A , LRG_245:g.13779G>A

Transcript Alleles

HGVS Amino-acid change
NM_000166.5:c.283G>A VV NP_000157.1:p.Val95Met
NM_001097642.2:c.283G>A , LRG_245t1:c.283G>A NP_001091111.1:p.Val95Met
XM_011530907.1:c.283G>A XP_011529209.1:p.Val95Met
XM_011530907.2:c.283G>A
ENST00000361726.6:c.283G>A ENSP00000354900.6:p.Val95Met
ENST00000374022.3:c.283G>A ENSP00000363134.3:p.Val95Met
ENST00000374029.1:c.283G>A ENSP00000363141.1:p.Val95Met