Canonical Allele Identifier: CA339310870

Gene: GJB3 SMIM12

Linked Data

• MyVariant Identifiers: chr1:g.35250451G>C (hg19) ; chr1:g.34784850G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784850G>C , CM000663.2:g.34784850G>C	GRCh38
NC_000001.10:g.35250451G>C , CM000663.1:g.35250451G>C	GRCh37
NC_000001.9:g.35023038G>C	NCBI36
NG_008309.1:g.8662G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.88G>C (GJB3) MANE Select	ENSP00000362464.2:p.Val30Leu
ENST00000373362.3:c.88G>C (GJB3)	ENSP00000362460.3:p.Val30Leu
ENST00000373366.2:c.88G>C (GJB3)	ENSP00000362464.2:p.Val30Leu
ENST00000426886.1:c.208-66441C>G (SMIM12)	ENSP00000429902.1:n.208-66441C>G
NM_001005752.1:c.88G>C (GJB3)	NP_001005752.1:p.Val30Leu
NM_024009.2:c.88G>C (GJB3)	NP_076872.1:p.Val30Leu
XR_947179.1:n.1001+13521C>G
XR_001737967.1:n.1023+13521C>G
NM_024009.3:c.88G>C (GJB3) MANE Select	NP_076872.1:p.Val30Leu
NM_001005752.2:c.88G>C (GJB3)	NP_001005752.1:p.Val30Leu