Canonical Allele Identifier: CA1752411598

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952485G= , CM000669.2:g.150952485G=	GRCh38
NC_000007.13:g.150649573G= , CM000669.1:g.150649573G=	GRCh37
NC_000007.12:g.150280506G=	NCBI36
NG_008916.1:g.30442C= , LRG_288:g.30442C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.795C=
ENST00000684116.1:n.390C=
ENST00000684241.1:n.2330C=
ENST00000262186.10:c.1497C= MANE Select	ENSP00000262186.5:p.Leu499=
ENST00000330883.9:c.477C=	ENSP00000328531.4:p.Leu159=
ENST00000262186.9:c.1497C=	ENSP00000262186.5:p.Leu499=
ENST00000330883.8:c.477C=	ENSP00000328531.4:p.Leu159=
ENST00000430723.4:c.1149C=	ENSP00000387657.4:p.Leu383=
ENST00000461280.1:n.784C=
ENST00000473610.5:n.802C=
ENST00000532957.5:n.1720C=
NM_000238.3:c.1497C= , LRG_288t1:c.1497C=	NP_000229.1:p.Leu499=
NM_001204798.1:c.477C=	NP_001191727.1:p.Leu159=
NM_172056.2:c.1497C= , LRG_288t2:c.1497C=	NP_742053.1:p.Leu499=
NM_172057.2:c.477C= , LRG_288t3:c.477C=	NP_742054.1:p.Leu159=
XM_011516185.1:c.1197C=	XP_011514487.1:p.Leu399=
XM_011516186.1:c.1497C=	XP_011514488.1:p.Leu499=
XM_011516185.2:c.1197C=	XP_011514487.1:p.Leu399=
XM_011516186.3:c.1497C=	XP_011514488.1:p.Leu499=
XM_017012195.1:c.1347C=	XP_016867684.1:p.Leu449=
XM_017012196.1:c.1320C=	XP_016867685.1:p.Leu440=
NM_000238.4:c.1497C= MANE Select	NP_000229.1:p.Leu499=
NM_001204798.2:c.477C=	NP_001191727.1:p.Leu159=
NM_172057.3:c.477C=	NP_742054.1:p.Leu159=