Canonical Allele Identifier: CA1752410242

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951643C= , CM000669.2:g.150951643C=	GRCh38
NC_000007.13:g.150648731C= , CM000669.1:g.150648731C=	GRCh37
NC_000007.12:g.150279664C=	NCBI36
NG_008916.1:g.31284G= , LRG_288:g.31284G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1750G= MANE Select	NP_000229.1:p.Gly584=
ENST00000262186.10:c.1750G= MANE Select	ENSP00000262186.5:p.Gly584=
NM_000238.3:c.1750G= , LRG_288t1:c.1750G=	NP_000229.1:p.Gly584=
NM_001204798.1:c.730G=	NP_001191727.1:p.Gly244=
NM_001204798.2:c.730G=	NP_001191727.1:p.Gly244=
NM_172056.2:c.1750G= , LRG_288t2:c.1750G=	NP_742053.1:p.Gly584=
NM_172057.2:c.730G= , LRG_288t3:c.730G=	NP_742054.1:p.Gly244=
NM_172057.3:c.730G=	NP_742054.1:p.Gly244=
ENST00000262186.9:c.1750G=	ENSP00000262186.5:p.Gly584=
ENST00000330883.8:c.730G=	ENSP00000328531.4:p.Gly244=
ENST00000330883.9:c.730G=	ENSP00000328531.4:p.Gly244=
ENST00000430723.4:c.1402G=	ENSP00000387657.4:p.Gly468=
ENST00000461280.1:n.1037G=
ENST00000461280.2:n.1048G=
ENST00000473610.5:n.1055G=
ENST00000532957.5:n.1973G=
ENST00000684241.1:n.2583G=
XM_011516185.1:c.1450G=	XP_011514487.1:p.Gly484=
XM_011516185.2:c.1450G=	XP_011514487.1:p.Gly484=
XM_011516186.1:c.1750G=	XP_011514488.1:p.Gly584=
XM_011516186.3:c.1750G=	XP_011514488.1:p.Gly584=
XM_017012195.1:c.1600G=	XP_016867684.1:p.Gly534=
XM_017012196.1:c.1573G=	XP_016867685.1:p.Gly525=