Canonical Allele Identifier: CA339301466

Gene: GJB4 SMIM12

Linked Data

• MyVariant Identifiers: chr1:g.35227202T>G (hg19) ; chr1:g.34761601T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761601T>G , CM000663.2:g.34761601T>G	GRCh38
NC_000001.10:g.35227202T>G , CM000663.1:g.35227202T>G	GRCh37
NC_000001.9:g.34999789T>G	NCBI36
NG_016243.1:g.6861T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.347T>G (GJB4) MANE Select	ENSP00000345868.1:p.Leu116Arg
ENST00000339480.1:c.347T>G (GJB4)	ENSP00000345868.1:p.Leu116Arg
ENST00000426886.1:c.208-43192A>C (SMIM12)	ENSP00000429902.1:n.208-43192A>C
NM_153212.2:c.347T>G (GJB4)	NP_694944.1:p.Leu116Arg
XM_011540679.1:c.347T>G (GJB4)	XP_011538981.1:p.Leu116Arg
XR_947179.1:n.1002-18152A>C
XM_011540679.2:c.347T>G (GJB4)	XP_011538981.1:p.Leu116Arg
XR_001737967.1:n.1023+36770A>C
NM_153212.3:c.347T>G (GJB4) MANE Select	NP_694944.1:p.Leu116Arg