Canonical Allele Identifier: CA339310159

Gene: GJB3 SMIM12

Linked Data

• COSMIC: COSM3488825
• MyVariant Identifiers: chr1:g.35250366G>A (hg19) ; chr1:g.34784765G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784765G>A , CM000663.2:g.34784765G>A	GRCh38
NC_000001.10:g.35250366G>A , CM000663.1:g.35250366G>A	GRCh37
NC_000001.9:g.35022953G>A	NCBI36
NG_008309.1:g.8577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.3G>A (GJB3) MANE Select	ENSP00000362464.2:p.Met1Ile
ENST00000373362.3:c.3G>A (GJB3)	ENSP00000362460.3:p.Met1Ile
ENST00000373366.2:c.3G>A (GJB3)	ENSP00000362464.2:p.Met1Ile
ENST00000426886.1:c.208-66356C>T (SMIM12)	ENSP00000429902.1:n.208-66356C>T
NM_001005752.1:c.3G>A (GJB3)	NP_001005752.1:p.Met1Ile
NM_024009.2:c.3G>A (GJB3)	NP_076872.1:p.Met1Ile
XR_947179.1:n.1001+13606C>T
XR_001737967.1:n.1023+13606C>T
NM_024009.3:c.3G>A (GJB3) MANE Select	NP_076872.1:p.Met1Ile
NM_001005752.2:c.3G>A (GJB3)	NP_001005752.1:p.Met1Ile