Canonical Allele Identifier: CA521927659

Gene: GJB3 SMIM12

Linked Data

• dbSNP Id: rs1373211527
• gnomAD v2: 1-35247339-G-C
• gnomAD v3: 1-34781738-G-C
• gnomAD v4: 1-34781738-G-C
• MyVariant Identifiers: chr1:g.35247339G>C (hg19) ; chr1:g.34781738G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781738G>C , CM000663.2:g.34781738G>C	GRCh38
NC_000001.10:g.35247339G>C , CM000663.1:g.35247339G>C	GRCh37
NC_000001.9:g.35019926G>C	NCBI36
NG_008309.1:g.5550G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-66G>C (GJB3) MANE Select	ENSP00000362464.2:n.-66G>C
ENST00000373366.2:c.-66G>C (GJB3)	ENSP00000362464.2:n.-66G>C
ENST00000426886.1:c.208-63329C>G (SMIM12)	ENSP00000429902.1:n.208-63329C>G
NM_024009.2:c.-66G>C (GJB3)	NP_076872.1:n.-66G>C
XR_947179.1:n.1001+16633C>G
XR_001737967.1:n.1023+16633C>G
NM_024009.3:c.-66G>C (GJB3) MANE Select	NP_076872.1:n.-66G>C