Canonical Allele Identifier: CA1752441188

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974880G= , CM000669.2:g.150974880G=	GRCh38
NC_000007.13:g.150671968G= , CM000669.1:g.150671968G=	GRCh37
NC_000007.12:g.150302901G=	NCBI36
NG_008916.1:g.8047C= , LRG_288:g.8047C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.138C= MANE Select	ENSP00000262186.5:p.Asp46=
ENST00000262186.9:c.138C=	ENSP00000262186.5:p.Asp46=
ENST00000430723.4:c.-40C=	ENSP00000387657.4:n.-40C=
ENST00000532957.5:n.361C=
NM_000238.3:c.138C= , LRG_288t1:c.138C=	NP_000229.1:p.Asp46=
NM_172056.2:c.138C= , LRG_288t2:c.138C=	NP_742053.1:p.Asp46=
XM_011516186.1:c.138C=	XP_011514488.1:p.Asp46=
XM_011516186.3:c.138C=	XP_011514488.1:p.Asp46=
XM_017012196.1:c.-40C=	XP_016867685.1:n.-40C=
NM_000238.4:c.138C= MANE Select	NP_000229.1:p.Asp46=