Canonical Allele Identifier: CA1752411779

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952566G= , CM000669.2:g.150952566G=	GRCh38
NC_000007.13:g.150649654G= , CM000669.1:g.150649654G=	GRCh37
NC_000007.12:g.150280587G=	NCBI36
NG_008916.1:g.30361C= , LRG_288:g.30361C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.714C=
ENST00000684116.1:n.309C=
ENST00000684241.1:n.2249C=
ENST00000262186.10:c.1416C= MANE Select	ENSP00000262186.5:p.Arg472=
ENST00000330883.9:c.396C=	ENSP00000328531.4:p.Arg132=
ENST00000262186.9:c.1416C=	ENSP00000262186.5:p.Arg472=
ENST00000330883.8:c.396C=	ENSP00000328531.4:p.Arg132=
ENST00000430723.4:c.1068C=	ENSP00000387657.4:p.Arg356=
ENST00000461280.1:n.703C=
ENST00000473610.5:n.721C=
ENST00000532957.5:n.1639C=
NM_000238.3:c.1416C= , LRG_288t1:c.1416C=	NP_000229.1:p.Arg472=
NM_001204798.1:c.396C=	NP_001191727.1:p.Arg132=
NM_172056.2:c.1416C= , LRG_288t2:c.1416C=	NP_742053.1:p.Arg472=
NM_172057.2:c.396C= , LRG_288t3:c.396C=	NP_742054.1:p.Arg132=
XM_011516185.1:c.1116C=	XP_011514487.1:p.Arg372=
XM_011516186.1:c.1416C=	XP_011514488.1:p.Arg472=
XM_011516185.2:c.1116C=	XP_011514487.1:p.Arg372=
XM_011516186.3:c.1416C=	XP_011514488.1:p.Arg472=
XM_017012195.1:c.1266C=	XP_016867684.1:p.Arg422=
XM_017012196.1:c.1239C=	XP_016867685.1:p.Arg413=
NM_000238.4:c.1416C= MANE Select	NP_000229.1:p.Arg472=
NM_001204798.2:c.396C=	NP_001191727.1:p.Arg132=
NM_172057.3:c.396C=	NP_742054.1:p.Arg132=