Canonical Allele Identifier: CA1752434237

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951011G= , CM000669.2:g.150951011G=	GRCh38
NC_000007.13:g.150648099G= , CM000669.1:g.150648099G=	GRCh37
NC_000007.12:g.150279032G=	NCBI36
NG_008916.1:g.31916C= , LRG_288:g.31916C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1353C=
ENST00000683359.1:n.179C=
ENST00000684241.1:n.2888C=
ENST00000262186.10:c.2055C= MANE Select	ENSP00000262186.5:p.Arg685=
ENST00000330883.9:c.1035C=	ENSP00000328531.4:p.Arg345=
ENST00000262186.9:c.2055C=	ENSP00000262186.5:p.Arg685=
ENST00000330883.8:c.1035C=	ENSP00000328531.4:p.Arg345=
ENST00000430723.4:c.1707C=	ENSP00000387657.4:p.Arg569=
ENST00000461280.1:n.1342C=
ENST00000473610.5:n.1687C=
ENST00000532957.5:n.2278C=
NM_000238.3:c.2055C= , LRG_288t1:c.2055C=	NP_000229.1:p.Arg685=
NM_001204798.1:c.1035C=	NP_001191727.1:p.Arg345=
NM_172056.2:c.2055C= , LRG_288t2:c.2055C=	NP_742053.1:p.Arg685=
NM_172057.2:c.1035C= , LRG_288t3:c.1035C=	NP_742054.1:p.Arg345=
XM_011516185.1:c.1755C=	XP_011514487.1:p.Arg585=
XM_011516186.1:c.2055C=	XP_011514488.1:p.Arg685=
XM_011516185.2:c.1755C=	XP_011514487.1:p.Arg585=
XM_011516186.3:c.2055C=	XP_011514488.1:p.Arg685=
XM_017012195.1:c.1905C=	XP_016867684.1:p.Arg635=
XM_017012196.1:c.1878C=	XP_016867685.1:p.Arg626=
NM_000238.4:c.2055C= MANE Select	NP_000229.1:p.Arg685=
NM_001204798.2:c.1035C=	NP_001191727.1:p.Arg345=
NM_172057.3:c.1035C=	NP_742054.1:p.Arg345=