Canonical Allele Identifier: CA1752410491

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951717A= , CM000669.2:g.150951717A=	GRCh38
NC_000007.13:g.150648805A= , CM000669.1:g.150648805A=	GRCh37
NC_000007.12:g.150279738A=	NCBI36
NG_008916.1:g.31210T= , LRG_288:g.31210T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.974T=
ENST00000684241.1:n.2509T=
ENST00000262186.10:c.1676T= MANE Select	ENSP00000262186.5:p.Leu559=
ENST00000330883.9:c.656T=	ENSP00000328531.4:p.Leu219=
ENST00000262186.9:c.1676T=	ENSP00000262186.5:p.Leu559=
ENST00000330883.8:c.656T=	ENSP00000328531.4:p.Leu219=
ENST00000430723.4:c.1328T=	ENSP00000387657.4:p.Leu443=
ENST00000461280.1:n.963T=
ENST00000473610.5:n.981T=
ENST00000532957.5:n.1899T=
NM_000238.3:c.1676T= , LRG_288t1:c.1676T=	NP_000229.1:p.Leu559=
NM_001204798.1:c.656T=	NP_001191727.1:p.Leu219=
NM_172056.2:c.1676T= , LRG_288t2:c.1676T=	NP_742053.1:p.Leu559=
NM_172057.2:c.656T= , LRG_288t3:c.656T=	NP_742054.1:p.Leu219=
XM_011516185.1:c.1376T=	XP_011514487.1:p.Leu459=
XM_011516186.1:c.1676T=	XP_011514488.1:p.Leu559=
XM_011516185.2:c.1376T=	XP_011514487.1:p.Leu459=
XM_011516186.3:c.1676T=	XP_011514488.1:p.Leu559=
XM_017012195.1:c.1526T=	XP_016867684.1:p.Leu509=
XM_017012196.1:c.1499T=	XP_016867685.1:p.Leu500=
NM_000238.4:c.1676T= MANE Select	NP_000229.1:p.Leu559=
NM_001204798.2:c.656T=	NP_001191727.1:p.Leu219=
NM_172057.3:c.656T=	NP_742054.1:p.Leu219=