Canonical Allele Identifier: CA10643941

Gene: GJB2

Linked Data

• ClinVar Variation Id: 311368
• ClinVar RCV Id: RCV000276325 ; RCV000356015 ; RCV000403260
• dbSNP Id: rs547859391
• gnomAD v3: 13-20188489-T-G
• gnomAD v4: 13-20188489-T-G
• MyVariant Identifiers: chr13:g.20762628T>G (hg19) ; chr13:g.20188489T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188489T>G , CM000675.2:g.20188489T>G	GRCh38
NC_000013.10:g.20762628T>G , CM000675.1:g.20762628T>G	GRCh37
NC_000013.9:g.19660628T>G	NCBI36
NG_008358.1:g.9487A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.*412A>C	ENSP00000372295.1:n.*412A>C
ENST00000382848.5:c.*412A>C MANE Select	ENSP00000372299.4:n.*412A>C
ENST00000382844.1:c.*412A>C	ENSP00000372295.1:n.*412A>C
ENST00000382848.4:c.*412A>C	ENSP00000372299.4:n.*412A>C
NM_004004.5:c.*412A>C	NP_003995.2:n.*412A>C
XM_011535049.1:c.*412A>C	XP_011533351.1:n.*412A>C
XM_011535049.2:c.*412A>C	XP_011533351.1:n.*412A>C
NM_004004.6:c.*412A>C MANE Select	NP_003995.2:n.*412A>C