Canonical Allele Identifier: CA1752434231

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951007G= , CM000669.2:g.150951007G=	GRCh38
NC_000007.13:g.150648095G= , CM000669.1:g.150648095G=	GRCh37
NC_000007.12:g.150279028G=	NCBI36
NG_008916.1:g.31920C= , LRG_288:g.31920C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1357C=
ENST00000683359.1:n.183C=
ENST00000684241.1:n.2892C=
ENST00000262186.10:c.2059C= MANE Select	ENSP00000262186.5:p.His687=
ENST00000330883.9:c.1039C=	ENSP00000328531.4:p.His347=
ENST00000262186.9:c.2059C=	ENSP00000262186.5:p.His687=
ENST00000330883.8:c.1039C=	ENSP00000328531.4:p.His347=
ENST00000430723.4:c.1711C=	ENSP00000387657.4:p.His571=
ENST00000461280.1:n.1346C=
ENST00000473610.5:n.1691C=
ENST00000532957.5:n.2282C=
NM_000238.3:c.2059C= , LRG_288t1:c.2059C=	NP_000229.1:p.His687=
NM_001204798.1:c.1039C=	NP_001191727.1:p.His347=
NM_172056.2:c.2059C= , LRG_288t2:c.2059C=	NP_742053.1:p.His687=
NM_172057.2:c.1039C= , LRG_288t3:c.1039C=	NP_742054.1:p.His347=
XM_011516185.1:c.1759C=	XP_011514487.1:p.His587=
XM_011516186.1:c.2059C=	XP_011514488.1:p.His687=
XM_011516185.2:c.1759C=	XP_011514487.1:p.His587=
XM_011516186.3:c.2059C=	XP_011514488.1:p.His687=
XM_017012195.1:c.1909C=	XP_016867684.1:p.His637=
XM_017012196.1:c.1882C=	XP_016867685.1:p.His628=
NM_000238.4:c.2059C= MANE Select	NP_000229.1:p.His687=
NM_001204798.2:c.1039C=	NP_001191727.1:p.His347=
NM_172057.3:c.1039C=	NP_742054.1:p.His347=