Canonical Allele Identifier: CA1000465458

Gene: GJB3 SMIM12

Linked Data

• dbSNP Id: rs1640008725
• gnomAD v3: 1-34781551-G-C
• gnomAD v4: 1-34781551-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781551G>C , CM000663.2:g.34781551G>C	GRCh38
NC_000001.10:g.35247152G>C , CM000663.1:g.35247152G>C	GRCh37
NC_000001.9:g.35019739G>C	NCBI36
NG_008309.1:g.5363G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-253G>C (GJB3) MANE Select	ENSP00000362464.2:n.-253G>C
ENST00000373366.2:c.-253G>C (GJB3)	ENSP00000362464.2:n.-253G>C
ENST00000426886.1:c.208-63142C>G (SMIM12)	ENSP00000429902.1:n.208-63142C>G
NM_024009.2:c.-253G>C (GJB3)	NP_076872.1:n.-253G>C
XR_947179.1:n.1001+16820C>G
XR_001737967.1:n.1023+16820C>G
NM_024009.3:c.-253G>C (GJB3) MANE Select	NP_076872.1:n.-253G>C