Canonical Allele Identifier: CA339310835

Gene: GJB3 SMIM12

Linked Data

• gnomAD v4: 1-34784847-T-C
• MyVariant Identifiers: chr1:g.35250448T>C (hg19) ; chr1:g.34784847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34784847T>C , CM000663.2:g.34784847T>C	GRCh38
NC_000001.10:g.35250448T>C , CM000663.1:g.35250448T>C	GRCh37
NC_000001.9:g.35023035T>C	NCBI36
NG_008309.1:g.8659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373366.3:c.85T>C (GJB3) MANE Select	ENSP00000362464.2:p.Phe29Leu
ENST00000373362.3:c.85T>C (GJB3)	ENSP00000362460.3:p.Phe29Leu
ENST00000373366.2:c.85T>C (GJB3)	ENSP00000362464.2:p.Phe29Leu
ENST00000426886.1:c.208-66438A>G (SMIM12)	ENSP00000429902.1:n.208-66438A>G
NM_001005752.1:c.85T>C (GJB3)	NP_001005752.1:p.Phe29Leu
NM_024009.2:c.85T>C (GJB3)	NP_076872.1:p.Phe29Leu
XR_947179.1:n.1001+13524A>G
XR_001737967.1:n.1023+13524A>G
NM_024009.3:c.85T>C (GJB3) MANE Select	NP_076872.1:p.Phe29Leu
NM_001005752.2:c.85T>C (GJB3)	NP_001005752.1:p.Phe29Leu