Canonical Allele Identifier: CA754719

Gene: GJB3 SMIM12

Linked Data

• dbSNP Id: rs368003170
• ExAC: 1:35250379 C / T
• gnomAD v2: 1-35250379-C-T
• gnomAD v3: 1-34784778-C-T
• gnomAD v4: 1-34784778-C-T
• MyVariant Identifiers: chr1:g.35250379C>T (hg19) ; chr1:g.34784778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784778C>T , CM000663.2:g.34784778C>T	GRCh38
NC_000001.10:g.35250379C>T , CM000663.1:g.35250379C>T	GRCh37
NC_000001.9:g.35022966C>T	NCBI36
NG_008309.1:g.8590C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.16C>T (GJB3) MANE Select	ENSP00000362464.2:p.Leu6Phe
ENST00000373362.3:c.16C>T (GJB3)	ENSP00000362460.3:p.Leu6Phe
ENST00000373366.2:c.16C>T (GJB3)	ENSP00000362464.2:p.Leu6Phe
ENST00000426886.1:c.208-66369G>A (SMIM12)	ENSP00000429902.1:n.208-66369G>A
NM_001005752.1:c.16C>T (GJB3)	NP_001005752.1:p.Leu6Phe
NM_024009.2:c.16C>T (GJB3)	NP_076872.1:p.Leu6Phe
XR_947179.1:n.1001+13593G>A
XR_001737967.1:n.1023+13593G>A
NM_024009.3:c.16C>T (GJB3) MANE Select	NP_076872.1:p.Leu6Phe
NM_001005752.2:c.16C>T (GJB3)	NP_001005752.1:p.Leu6Phe