Canonical Allele Identifier: CA417248014

Gene: GJB4 SMIM12

Linked Data

• MyVariant Identifiers: chr1:g.35227083C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34761482C>T , CM000663.2:g.34761482C>T	GRCh38
NC_000001.10:g.35227083C>T , CM000663.1:g.35227083C>T	GRCh37
NC_000001.9:g.34999670C>T	NCBI36
NG_016243.1:g.6742C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339480.3:c.228C>T (GJB4) MANE Select	ENSP00000345868.1:p.Leu76=
ENST00000339480.1:c.228C>T (GJB4)	ENSP00000345868.1:p.Leu76=
ENST00000426886.1:c.208-43073G>A (SMIM12)	ENSP00000429902.1:n.208-43073G>A
NM_153212.2:c.228C>T (GJB4)	NP_694944.1:p.Leu76=
XM_011540679.1:c.228C>T (GJB4)	XP_011538981.1:p.Leu76=
XR_947179.1:n.1002-18033G>A
XM_011540679.2:c.228C>T (GJB4)	XP_011538981.1:p.Leu76=
XR_001737967.1:n.1023+36889G>A
NM_153212.3:c.228C>T (GJB4) MANE Select	NP_694944.1:p.Leu76=