Canonical Allele Identifier: CA339310536

Gene: GJB3 SMIM12

Linked Data

• dbSNP Id: rs1640072347
• MyVariant Identifiers: chr1:g.35250421T>A (hg19) ; chr1:g.34784820T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784820T>A , CM000663.2:g.34784820T>A	GRCh38
NC_000001.10:g.35250421T>A , CM000663.1:g.35250421T>A	GRCh37
NC_000001.9:g.35023008T>A	NCBI36
NG_008309.1:g.8632T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.58T>A (GJB3) MANE Select	ENSP00000362464.2:p.Phe20Ile
ENST00000373362.3:c.58T>A (GJB3)	ENSP00000362460.3:p.Phe20Ile
ENST00000373366.2:c.58T>A (GJB3)	ENSP00000362464.2:p.Phe20Ile
ENST00000426886.1:c.208-66411A>T (SMIM12)	ENSP00000429902.1:n.208-66411A>T
NM_001005752.1:c.58T>A (GJB3)	NP_001005752.1:p.Phe20Ile
NM_024009.2:c.58T>A (GJB3)	NP_076872.1:p.Phe20Ile
XR_947179.1:n.1001+13551A>T
XR_001737967.1:n.1023+13551A>T
NM_024009.3:c.58T>A (GJB3) MANE Select	NP_076872.1:p.Phe20Ile
NM_001005752.2:c.58T>A (GJB3)	NP_001005752.1:p.Phe20Ile