Canonical Allele Identifier: CA255232
Gene: GJB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10432
ClinVar RCV Id: RCV000011177
dbSNP Id: rs104894811

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.71224221C>T , CM000685.2:g.71224221C>T GRCh38
NC_000023.9:g.70360796C>T NCBI36
NC_000023.10:g.70444071C>T , CM000685.1:g.70444071C>T GRCh37
NG_008357.1:g.14010C>T , LRG_245:g.14010C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361726.6:c.514C>T ENSP00000354900.6:p.Pro172Ser
ENST00000374022.3:c.514C>T ENSP00000363134.3:p.Pro172Ser
ENST00000374029.1:c.514C>T ENSP00000363141.1:p.Pro172Ser
NM_000166.5:c.514C>T VV NP_000157.1:p.Pro172Ser
NM_001097642.2:c.514C>T , LRG_245t1:c.514C>T NP_001091111.1:p.Pro172Ser
XM_011530907.1:c.514C>T XP_011529209.1:p.Pro172Ser