Canonical Allele Identifier: CA2644769060

Gene: GJB3 SMIM12

Linked Data

• gnomAD v4: 1-34781736-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34781736G>C , CM000663.2:g.34781736G>C	GRCh38
NC_000001.10:g.35247337G>C , CM000663.1:g.35247337G>C	GRCh37
NC_000001.9:g.35019924G>C	NCBI36
NG_008309.1:g.5548G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.-68G>C (GJB3) MANE Select	ENSP00000362464.2:n.-68G>C
ENST00000373366.2:c.-68G>C (GJB3)	ENSP00000362464.2:n.-68G>C
ENST00000426886.1:c.208-63327C>G (SMIM12)	ENSP00000429902.1:n.208-63327C>G
NM_024009.2:c.-68G>C (GJB3)	NP_076872.1:n.-68G>C
XR_947179.1:n.1001+16635C>G
XR_001737967.1:n.1023+16635C>G
NM_024009.3:c.-68G>C (GJB3) MANE Select	NP_076872.1:n.-68G>C