Canonical Allele Identifier: CA1752434222

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951002C= , CM000669.2:g.150951002C=	GRCh38
NC_000007.13:g.150648090C= , CM000669.1:g.150648090C=	GRCh37
NC_000007.12:g.150279023C=	NCBI36
NG_008916.1:g.31925G= , LRG_288:g.31925G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1362G=
ENST00000683359.1:n.188G=
ENST00000684241.1:n.2897G=
ENST00000262186.10:c.2064G= MANE Select	ENSP00000262186.5:p.Gln688=
ENST00000330883.9:c.1044G=	ENSP00000328531.4:p.Gln348=
ENST00000262186.9:c.2064G=	ENSP00000262186.5:p.Gln688=
ENST00000330883.8:c.1044G=	ENSP00000328531.4:p.Gln348=
ENST00000430723.4:c.1716G=	ENSP00000387657.4:p.Gln572=
ENST00000461280.1:n.1351G=
ENST00000473610.5:n.1696G=
ENST00000532957.5:n.2287G=
NM_000238.3:c.2064G= , LRG_288t1:c.2064G=	NP_000229.1:p.Gln688=
NM_001204798.1:c.1044G=	NP_001191727.1:p.Gln348=
NM_172056.2:c.2064G= , LRG_288t2:c.2064G=	NP_742053.1:p.Gln688=
NM_172057.2:c.1044G= , LRG_288t3:c.1044G=	NP_742054.1:p.Gln348=
XM_011516185.1:c.1764G=	XP_011514487.1:p.Gln588=
XM_011516186.1:c.2064G=	XP_011514488.1:p.Gln688=
XM_011516185.2:c.1764G=	XP_011514487.1:p.Gln588=
XM_011516186.3:c.2064G=	XP_011514488.1:p.Gln688=
XM_017012195.1:c.1914G=	XP_016867684.1:p.Gln638=
XM_017012196.1:c.1887G=	XP_016867685.1:p.Gln629=
NM_000238.4:c.2064G= MANE Select	NP_000229.1:p.Gln688=
NM_001204798.2:c.1044G=	NP_001191727.1:p.Gln348=
NM_172057.3:c.1044G=	NP_742054.1:p.Gln348=