Canonical Allele Identifier: CA183683

Gene: GJB3 SMIM12

Linked Data

• ClinVar Variation Id: 179079
• ClinVar RCV Id: RCV000155863
• dbSNP Id: rs727504610
• ExAC: 1:35250462 G / A
• gnomAD v2: 1-35250462-G-A
• gnomAD v3: 1-34784861-G-A
• gnomAD v4: 1-34784861-G-A
• MyVariant Identifiers: chr1:g.35250462G>A (hg19) ; chr1:g.34784861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784861G>A , CM000663.2:g.34784861G>A	GRCh38
NC_000001.10:g.35250462G>A , CM000663.1:g.35250462G>A	GRCh37
NC_000001.9:g.35023049G>A	NCBI36
NG_008309.1:g.8673G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373366.3:c.99G>A (GJB3) MANE Select	ENSP00000362464.2:p.Val33=
ENST00000373362.3:c.99G>A (GJB3)	ENSP00000362460.3:p.Val33=
ENST00000373366.2:c.99G>A (GJB3)	ENSP00000362464.2:p.Val33=
ENST00000426886.1:c.208-66452C>T (SMIM12)	ENSP00000429902.1:n.208-66452C>T
NM_001005752.1:c.99G>A (GJB3)	NP_001005752.1:p.Val33=
NM_024009.2:c.99G>A (GJB3)	NP_076872.1:p.Val33=
XR_947179.1:n.1001+13510C>T
XR_001737967.1:n.1023+13510C>T
NM_024009.3:c.99G>A (GJB3) MANE Select	NP_076872.1:p.Val33=
NM_001005752.2:c.99G>A (GJB3)	NP_001005752.1:p.Val33=