Canonical Allele Identifier: CA1752412228

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952783A= , CM000669.2:g.150952783A=	GRCh38
NC_000007.13:g.150649871A= , CM000669.1:g.150649871A=	GRCh37
NC_000007.12:g.150280804A=	NCBI36
NG_008916.1:g.30144T= , LRG_288:g.30144T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.497T=
ENST00000684116.1:n.92T=
ENST00000684241.1:n.2032T=
ENST00000262186.10:c.1199T= MANE Select	ENSP00000262186.5:p.Ile400=
ENST00000330883.9:c.179T=	ENSP00000328531.4:p.Ile60=
ENST00000262186.9:c.1199T=	ENSP00000262186.5:p.Ile400=
ENST00000330883.8:c.179T=	ENSP00000328531.4:p.Ile60=
ENST00000430723.4:c.851T=	ENSP00000387657.4:p.Ile284=
ENST00000461280.1:n.486T=
ENST00000473610.5:n.504T=
ENST00000532957.5:n.1422T=
NM_000238.3:c.1199T= , LRG_288t1:c.1199T=	NP_000229.1:p.Ile400=
NM_001204798.1:c.179T=	NP_001191727.1:p.Ile60=
NM_172056.2:c.1199T= , LRG_288t2:c.1199T=	NP_742053.1:p.Ile400=
NM_172057.2:c.179T= , LRG_288t3:c.179T=	NP_742054.1:p.Ile60=
XM_011516185.1:c.899T=	XP_011514487.1:p.Ile300=
XM_011516186.1:c.1199T=	XP_011514488.1:p.Ile400=
XM_011516185.2:c.899T=	XP_011514487.1:p.Ile300=
XM_011516186.3:c.1199T=	XP_011514488.1:p.Ile400=
XM_017012195.1:c.1049T=	XP_016867684.1:p.Ile350=
XM_017012196.1:c.1022T=	XP_016867685.1:p.Ile341=
NM_000238.4:c.1199T= MANE Select	NP_000229.1:p.Ile400=
NM_001204798.2:c.179T=	NP_001191727.1:p.Ile60=
NM_172057.3:c.179T=	NP_742054.1:p.Ile60=