Canonical Allele Identifier: CA339300173

Gene: GJB4 SMIM12

Linked Data

• MyVariant Identifiers: chr1:g.35227034G>T (hg19) ; chr1:g.34761433G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761433G>T , CM000663.2:g.34761433G>T	GRCh38
NC_000001.10:g.35227034G>T , CM000663.1:g.35227034G>T	GRCh37
NC_000001.9:g.34999621G>T	NCBI36
NG_016243.1:g.6693G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.179G>T (GJB4) MANE Select	ENSP00000345868.1:p.Cys60Phe
ENST00000339480.1:c.179G>T (GJB4)	ENSP00000345868.1:p.Cys60Phe
ENST00000426886.1:c.208-43024C>A (SMIM12)	ENSP00000429902.1:n.208-43024C>A
NM_153212.2:c.179G>T (GJB4)	NP_694944.1:p.Cys60Phe
XM_011540679.1:c.179G>T (GJB4)	XP_011538981.1:p.Cys60Phe
XR_947179.1:n.1002-17984C>A
XM_011540679.2:c.179G>T (GJB4)	XP_011538981.1:p.Cys60Phe
XR_001737967.1:n.1023+36938C>A
NM_153212.3:c.179G>T (GJB4) MANE Select	NP_694944.1:p.Cys60Phe