Canonical Allele Identifier: CA1752410518

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951729C= , CM000669.2:g.150951729C=	GRCh38
NC_000007.13:g.150648817C= , CM000669.1:g.150648817C=	GRCh37
NC_000007.12:g.150279750C=	NCBI36
NG_008916.1:g.31198G= , LRG_288:g.31198G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1664G= MANE Select	NP_000229.1:p.Cys555=
ENST00000262186.10:c.1664G= MANE Select	ENSP00000262186.5:p.Cys555=
NM_000238.3:c.1664G= , LRG_288t1:c.1664G=	NP_000229.1:p.Cys555=
NM_001204798.1:c.644G=	NP_001191727.1:p.Cys215=
NM_001204798.2:c.644G=	NP_001191727.1:p.Cys215=
NM_172056.2:c.1664G= , LRG_288t2:c.1664G=	NP_742053.1:p.Cys555=
NM_172057.2:c.644G= , LRG_288t3:c.644G=	NP_742054.1:p.Cys215=
NM_172057.3:c.644G=	NP_742054.1:p.Cys215=
ENST00000262186.9:c.1664G=	ENSP00000262186.5:p.Cys555=
ENST00000330883.8:c.644G=	ENSP00000328531.4:p.Cys215=
ENST00000330883.9:c.644G=	ENSP00000328531.4:p.Cys215=
ENST00000430723.4:c.1316G=	ENSP00000387657.4:p.Cys439=
ENST00000461280.1:n.951G=
ENST00000461280.2:n.962G=
ENST00000473610.5:n.969G=
ENST00000532957.5:n.1887G=
ENST00000684116.1:n.557G=
ENST00000684241.1:n.2497G=
XM_011516185.1:c.1364G=	XP_011514487.1:p.Cys455=
XM_011516185.2:c.1364G=	XP_011514487.1:p.Cys455=
XM_011516186.1:c.1664G=	XP_011514488.1:p.Cys555=
XM_011516186.3:c.1664G=	XP_011514488.1:p.Cys555=
XM_017012195.1:c.1514G=	XP_016867684.1:p.Cys505=
XM_017012196.1:c.1487G=	XP_016867685.1:p.Cys496=