Canonical Allele Identifier: CA1752409792

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951551C= , CM000669.2:g.150951551C=	GRCh38
NC_000007.13:g.150648639C= , CM000669.1:g.150648639C=	GRCh37
NC_000007.12:g.150279572C=	NCBI36
NG_008916.1:g.31376G= , LRG_288:g.31376G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1140G=
ENST00000684241.1:n.2675G=
ENST00000262186.10:c.1842G= MANE Select	ENSP00000262186.5:p.Ala614=
ENST00000330883.9:c.822G=	ENSP00000328531.4:p.Ala274=
ENST00000262186.9:c.1842G=	ENSP00000262186.5:p.Ala614=
ENST00000330883.8:c.822G=	ENSP00000328531.4:p.Ala274=
ENST00000430723.4:c.1494G=	ENSP00000387657.4:p.Ala498=
ENST00000461280.1:n.1129G=
ENST00000473610.5:n.1147G=
ENST00000532957.5:n.2065G=
NM_000238.3:c.1842G= , LRG_288t1:c.1842G=	NP_000229.1:p.Ala614=
NM_001204798.1:c.822G=	NP_001191727.1:p.Ala274=
NM_172056.2:c.1842G= , LRG_288t2:c.1842G=	NP_742053.1:p.Ala614=
NM_172057.2:c.822G= , LRG_288t3:c.822G=	NP_742054.1:p.Ala274=
XM_011516185.1:c.1542G=	XP_011514487.1:p.Ala514=
XM_011516186.1:c.1842G=	XP_011514488.1:p.Ala614=
XM_011516185.2:c.1542G=	XP_011514487.1:p.Ala514=
XM_011516186.3:c.1842G=	XP_011514488.1:p.Ala614=
XM_017012195.1:c.1692G=	XP_016867684.1:p.Ala564=
XM_017012196.1:c.1665G=	XP_016867685.1:p.Ala555=
NM_000238.4:c.1842G= MANE Select	NP_000229.1:p.Ala614=
NM_001204798.2:c.822G=	NP_001191727.1:p.Ala274=
NM_172057.3:c.822G=	NP_742054.1:p.Ala274=