Canonical Allele Identifier: CA754489

Gene: GJB4 SMIM12

Linked Data

• dbSNP Id: rs758857197
• ExAC: 1:35227008 T / C
• gnomAD v2: 1-35227008-T-C
• gnomAD v4: 1-34761407-T-C
• MyVariant Identifiers: chr1:g.35227008T>C (hg19) ; chr1:g.34761407T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761407T>C , CM000663.2:g.34761407T>C	GRCh38
NC_000001.10:g.35227008T>C , CM000663.1:g.35227008T>C	GRCh37
NC_000001.9:g.34999595T>C	NCBI36
NG_016243.1:g.6667T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.153T>C (GJB4) MANE Select	ENSP00000345868.1:p.Phe51=
ENST00000339480.1:c.153T>C (GJB4)	ENSP00000345868.1:p.Phe51=
ENST00000426886.1:c.208-42998A>G (SMIM12)	ENSP00000429902.1:n.208-42998A>G
NM_153212.2:c.153T>C (GJB4)	NP_694944.1:p.Phe51=
XM_011540679.1:c.153T>C (GJB4)	XP_011538981.1:p.Phe51=
XR_947179.1:n.1002-17958A>G
XM_011540679.2:c.153T>C (GJB4)	XP_011538981.1:p.Phe51=
XR_001737967.1:n.1023+36964A>G
NM_153212.3:c.153T>C (GJB4) MANE Select	NP_694944.1:p.Phe51=