Canonical Allele Identifier: CA1752412134

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952739G= , CM000669.2:g.150952739G=	GRCh38
NC_000007.13:g.150649827G= , CM000669.1:g.150649827G=	GRCh37
NC_000007.12:g.150280760G=	NCBI36
NG_008916.1:g.30188C= , LRG_288:g.30188C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.541C=
ENST00000684116.1:n.136C=
ENST00000684241.1:n.2076C=
ENST00000262186.10:c.1243C= MANE Select	ENSP00000262186.5:p.Leu415=
ENST00000330883.9:c.223C=	ENSP00000328531.4:p.Leu75=
ENST00000262186.9:c.1243C=	ENSP00000262186.5:p.Leu415=
ENST00000330883.8:c.223C=	ENSP00000328531.4:p.Leu75=
ENST00000430723.4:c.895C=	ENSP00000387657.4:p.Leu299=
ENST00000461280.1:n.530C=
ENST00000473610.5:n.548C=
ENST00000532957.5:n.1466C=
NM_000238.3:c.1243C= , LRG_288t1:c.1243C=	NP_000229.1:p.Leu415=
NM_001204798.1:c.223C=	NP_001191727.1:p.Leu75=
NM_172056.2:c.1243C= , LRG_288t2:c.1243C=	NP_742053.1:p.Leu415=
NM_172057.2:c.223C= , LRG_288t3:c.223C=	NP_742054.1:p.Leu75=
XM_011516185.1:c.943C=	XP_011514487.1:p.Leu315=
XM_011516186.1:c.1243C=	XP_011514488.1:p.Leu415=
XM_011516185.2:c.943C=	XP_011514487.1:p.Leu315=
XM_011516186.3:c.1243C=	XP_011514488.1:p.Leu415=
XM_017012195.1:c.1093C=	XP_016867684.1:p.Leu365=
XM_017012196.1:c.1066C=	XP_016867685.1:p.Leu356=
NM_000238.4:c.1243C= MANE Select	NP_000229.1:p.Leu415=
NM_001204798.2:c.223C=	NP_001191727.1:p.Leu75=
NM_172057.3:c.223C=	NP_742054.1:p.Leu75=