Canonical Allele Identifier: CA1752411749

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952556C= , CM000669.2:g.150952556C=	GRCh38
NC_000007.13:g.150649644C= , CM000669.1:g.150649644C=	GRCh37
NC_000007.12:g.150280577C=	NCBI36
NG_008916.1:g.30371G= , LRG_288:g.30371G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.724G=
ENST00000684116.1:n.319G=
ENST00000684241.1:n.2259G=
ENST00000262186.10:c.1426G= MANE Select	ENSP00000262186.5:p.Val476=
ENST00000330883.9:c.406G=	ENSP00000328531.4:p.Val136=
ENST00000262186.9:c.1426G=	ENSP00000262186.5:p.Val476=
ENST00000330883.8:c.406G=	ENSP00000328531.4:p.Val136=
ENST00000430723.4:c.1078G=	ENSP00000387657.4:p.Val360=
ENST00000461280.1:n.713G=
ENST00000473610.5:n.731G=
ENST00000532957.5:n.1649G=
NM_000238.3:c.1426G= , LRG_288t1:c.1426G=	NP_000229.1:p.Val476=
NM_001204798.1:c.406G=	NP_001191727.1:p.Val136=
NM_172056.2:c.1426G= , LRG_288t2:c.1426G=	NP_742053.1:p.Val476=
NM_172057.2:c.406G= , LRG_288t3:c.406G=	NP_742054.1:p.Val136=
XM_011516185.1:c.1126G=	XP_011514487.1:p.Val376=
XM_011516186.1:c.1426G=	XP_011514488.1:p.Val476=
XM_011516185.2:c.1126G=	XP_011514487.1:p.Val376=
XM_011516186.3:c.1426G=	XP_011514488.1:p.Val476=
XM_017012195.1:c.1276G=	XP_016867684.1:p.Val426=
XM_017012196.1:c.1249G=	XP_016867685.1:p.Val417=
NM_000238.4:c.1426G= MANE Select	NP_000229.1:p.Val476=
NM_001204798.2:c.406G=	NP_001191727.1:p.Val136=
NM_172057.3:c.406G=	NP_742054.1:p.Val136=