Canonical Allele Identifier: CA3146465431

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952469C= , CM000669.2:g.150952469C=	GRCh38
NC_000007.13:g.150649557C= , CM000669.1:g.150649557C=	GRCh37
NC_000007.12:g.150280490C=	NCBI36
NG_008916.1:g.30458G= , LRG_288:g.30458G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1513G= MANE Select	NP_000229.1:p.Ala505=
ENST00000262186.10:c.1513G= MANE Select	ENSP00000262186.5:p.Ala505=
NM_000238.3:c.1513G= , LRG_288t1:c.1513G=	NP_000229.1:p.Ala505=
NM_001204798.1:c.493G=	NP_001191727.1:p.Ala165=
NM_001204798.2:c.493G=	NP_001191727.1:p.Ala165=
NM_172056.2:c.1513G= , LRG_288t2:c.1513G=	NP_742053.1:p.Ala505=
NM_172057.2:c.493G= , LRG_288t3:c.493G=	NP_742054.1:p.Ala165=
NM_172057.3:c.493G=	NP_742054.1:p.Ala165=
ENST00000262186.9:c.1513G=	ENSP00000262186.5:p.Ala505=
ENST00000330883.8:c.493G=	ENSP00000328531.4:p.Ala165=
ENST00000330883.9:c.493G=	ENSP00000328531.4:p.Ala165=
ENST00000430723.4:c.1165G=	ENSP00000387657.4:p.Ala389=
ENST00000461280.1:n.800G=
ENST00000461280.2:n.811G=
ENST00000473610.5:n.818G=
ENST00000532957.5:n.1736G=
ENST00000684116.1:n.406G=
ENST00000684241.1:n.2346G=
XM_011516185.1:c.1213G=	XP_011514487.1:p.Ala405=
XM_011516185.2:c.1213G=	XP_011514487.1:p.Ala405=
XM_011516186.1:c.1513G=	XP_011514488.1:p.Ala505=
XM_011516186.3:c.1513G=	XP_011514488.1:p.Ala505=
XM_017012195.1:c.1363G=	XP_016867684.1:p.Ala455=
XM_017012196.1:c.1336G=	XP_016867685.1:p.Ala446=