Canonical Allele Identifier: CA339310244

Gene: GJB3 SMIM12

Linked Data

• gnomAD v4: 1-34784776-C-T
• MyVariant Identifiers: chr1:g.35250377C>T (hg19) ; chr1:g.34784776C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784776C>T , CM000663.2:g.34784776C>T	GRCh38
NC_000001.10:g.35250377C>T , CM000663.1:g.35250377C>T	GRCh37
NC_000001.9:g.35022964C>T	NCBI36
NG_008309.1:g.8588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.14C>T (GJB3) MANE Select	ENSP00000362464.2:p.Thr5Ile
ENST00000373362.3:c.14C>T (GJB3)	ENSP00000362460.3:p.Thr5Ile
ENST00000373366.2:c.14C>T (GJB3)	ENSP00000362464.2:p.Thr5Ile
ENST00000426886.1:c.208-66367G>A (SMIM12)	ENSP00000429902.1:n.208-66367G>A
NM_001005752.1:c.14C>T (GJB3)	NP_001005752.1:p.Thr5Ile
NM_024009.2:c.14C>T (GJB3)	NP_076872.1:p.Thr5Ile
XR_947179.1:n.1001+13595G>A
XR_001737967.1:n.1023+13595G>A
NM_024009.3:c.14C>T (GJB3) MANE Select	NP_076872.1:p.Thr5Ile
NM_001005752.2:c.14C>T (GJB3)	NP_001005752.1:p.Thr5Ile