Canonical Allele Identifier: CA1752410410

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951700C= , CM000669.2:g.150951700C=	GRCh38
NC_000007.13:g.150648788C= , CM000669.1:g.150648788C=	GRCh37
NC_000007.12:g.150279721C=	NCBI36
NG_008916.1:g.31227G= , LRG_288:g.31227G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1693G= MANE Select	NP_000229.1:p.Ala565=
ENST00000262186.10:c.1693G= MANE Select	ENSP00000262186.5:p.Ala565=
NM_000238.3:c.1693G= , LRG_288t1:c.1693G=	NP_000229.1:p.Ala565=
NM_001204798.1:c.673G=	NP_001191727.1:p.Ala225=
NM_001204798.2:c.673G=	NP_001191727.1:p.Ala225=
NM_172056.2:c.1693G= , LRG_288t2:c.1693G=	NP_742053.1:p.Ala565=
NM_172057.2:c.673G= , LRG_288t3:c.673G=	NP_742054.1:p.Ala225=
NM_172057.3:c.673G=	NP_742054.1:p.Ala225=
ENST00000262186.9:c.1693G=	ENSP00000262186.5:p.Ala565=
ENST00000330883.8:c.673G=	ENSP00000328531.4:p.Ala225=
ENST00000330883.9:c.673G=	ENSP00000328531.4:p.Ala225=
ENST00000430723.4:c.1345G=	ENSP00000387657.4:p.Ala449=
ENST00000461280.1:n.980G=
ENST00000461280.2:n.991G=
ENST00000473610.5:n.998G=
ENST00000532957.5:n.1916G=
ENST00000684241.1:n.2526G=
XM_011516185.1:c.1393G=	XP_011514487.1:p.Ala465=
XM_011516185.2:c.1393G=	XP_011514487.1:p.Ala465=
XM_011516186.1:c.1693G=	XP_011514488.1:p.Ala565=
XM_011516186.3:c.1693G=	XP_011514488.1:p.Ala565=
XM_017012195.1:c.1543G=	XP_016867684.1:p.Ala515=
XM_017012196.1:c.1516G=	XP_016867685.1:p.Ala506=