Canonical Allele Identifier: CA257677

Gene: GJB2

Linked Data

• ClinVar Variation Id: 17017
• ClinVar RCV Id: RCV002466408
• dbSNP Id: rs104894401
• gnomAD v3: 13-20189154-C-T
• gnomAD v4: 13-20189154-C-T
• COSMIC: COSM3376500
• MyVariant Identifiers: chr13:g.20763293C>T (hg19) ; chr13:g.20189154C>T (hg38)
• PubMed: PMID:11313763 ; PMID:11438992 ; PMID:12189487 ; PMID:16931589 ; PMID:17485979 ; PMID:17567887 ; PMID:17666888 ; PMID:19715472 ; PMID:20096356 ; PMID:20301708 ; PMID:21040787 ; PMID:22991996 ; PMID:23856378 ; PMID:24372583 ; PMID:26397989

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189154C>T , CM000675.2:g.20189154C>T	GRCh38
NC_000013.10:g.20763293C>T , CM000675.1:g.20763293C>T	GRCh37
NC_000013.9:g.19661293C>T	NCBI36
NG_008358.1:g.8822G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.428G>A	ENSP00000372295.1:p.Arg143Gln
ENST00000382848.5:c.428G>A MANE Select	ENSP00000372299.4:p.Arg143Gln
ENST00000382844.1:c.428G>A	ENSP00000372295.1:p.Arg143Gln
ENST00000382848.4:c.428G>A	ENSP00000372299.4:p.Arg143Gln
NM_004004.5:c.428G>A	NP_003995.2:p.Arg143Gln
XM_011535049.1:c.428G>A	XP_011533351.1:p.Arg143Gln
XM_011535049.2:c.428G>A	XP_011533351.1:p.Arg143Gln
NM_004004.6:c.428G>A MANE Select	NP_003995.2:p.Arg143Gln