Canonical Allele Identifier: CA1752432917

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950047G= , CM000669.2:g.150950047G=	GRCh38
NC_000007.13:g.150647135G= , CM000669.1:g.150647135G=	GRCh37
NC_000007.12:g.150278068G=	NCBI36
NG_008916.1:g.32880C= , LRG_288:g.32880C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1817C=
ENST00000684241.1:n.3231+121C=
ENST00000262186.10:c.2398+121C= MANE Select	ENSP00000262186.5:n.2398+121C=
ENST00000330883.9:c.1378+121C=	ENSP00000328531.4:n.1378+121C=
ENST00000262186.9:c.2398+121C=	ENSP00000262186.5:n.2398+121C=
ENST00000330883.8:c.1378+121C=	ENSP00000328531.4:n.1378+121C=
ENST00000430723.4:c.2171C=	ENSP00000387657.4:p.Ala724=
ENST00000461280.1:n.1806C=
ENST00000473610.5:n.2151C=
ENST00000532957.5:n.2742C=
NM_000238.3:c.2398+121C= , LRG_288t1:c.2398+121C=	NP_000229.1:n.2398+121C=
NM_001204798.1:c.1499C=	NP_001191727.1:p.Ala500=
NM_172056.2:c.2519C= , LRG_288t2:c.2519C=	NP_742053.1:p.Ala840=
NM_172057.2:c.1378+121C= , LRG_288t3:c.1378+121C=	NP_742054.1:n.1378+121C=
XM_011516185.1:c.2098+121C=	XP_011514487.1:n.2098+121C=
XM_011516186.1:c.2398+121C=	XP_011514488.1:n.2398+121C=
XM_011516185.2:c.2098+121C=	XP_011514487.1:n.2098+121C=
XM_011516186.3:c.2398+121C=	XP_011514488.1:n.2398+121C=
XM_017012195.1:c.2248+121C=	XP_016867684.1:n.2248+121C=
XM_017012196.1:c.2221+121C=	XP_016867685.1:n.2221+121C=
NM_000238.4:c.2398+121C= MANE Select	NP_000229.1:n.2398+121C=
NM_001204798.2:c.1499C=	NP_001191727.1:p.Ala500=
NM_172057.3:c.1378+121C=	NP_742054.1:n.1378+121C=