Canonical Allele Identifier: CA754736

Gene: GJB3 SMIM12

Linked Data

• ClinVar Variation Id: 930512
• ClinVar RCV Id: RCV001196230 ; RCV002560219
• dbSNP Id: rs775072109
• ExAC: 1:35250442 G / A
• gnomAD v2: 1-35250442-G-A
• gnomAD v3: 1-34784841-G-A
• gnomAD v4: 1-34784841-G-A
• MyVariant Identifiers: chr1:g.35250442G>A (hg19) ; chr1:g.34784841G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784841G>A , CM000663.2:g.34784841G>A	GRCh38
NC_000001.10:g.35250442G>A , CM000663.1:g.35250442G>A	GRCh37
NC_000001.9:g.35023029G>A	NCBI36
NG_008309.1:g.8653G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.79G>A (GJB3) MANE Select	ENSP00000362464.2:p.Val27Met
ENST00000373362.3:c.79G>A (GJB3)	ENSP00000362460.3:p.Val27Met
ENST00000373366.2:c.79G>A (GJB3)	ENSP00000362464.2:p.Val27Met
ENST00000426886.1:c.208-66432C>T (SMIM12)	ENSP00000429902.1:n.208-66432C>T
NM_001005752.1:c.79G>A (GJB3)	NP_001005752.1:p.Val27Met
NM_024009.2:c.79G>A (GJB3)	NP_076872.1:p.Val27Met
XR_947179.1:n.1001+13530C>T
XR_001737967.1:n.1023+13530C>T
NM_024009.3:c.79G>A (GJB3) MANE Select	NP_076872.1:p.Val27Met
NM_001005752.2:c.79G>A (GJB3)	NP_001005752.1:p.Val27Met