Canonical Allele Identifier: CA1752412034

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952696G= , CM000669.2:g.150952696G=	GRCh38
NC_000007.13:g.150649784G= , CM000669.1:g.150649784G=	GRCh37
NC_000007.12:g.150280717G=	NCBI36
NG_008916.1:g.30231C= , LRG_288:g.30231C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.584C=
ENST00000684116.1:n.179C=
ENST00000684241.1:n.2119C=
ENST00000262186.10:c.1286C= MANE Select	ENSP00000262186.5:p.Ala429=
ENST00000330883.9:c.266C=	ENSP00000328531.4:p.Ala89=
ENST00000262186.9:c.1286C=	ENSP00000262186.5:p.Ala429=
ENST00000330883.8:c.266C=	ENSP00000328531.4:p.Ala89=
ENST00000430723.4:c.938C=	ENSP00000387657.4:p.Ala313=
ENST00000461280.1:n.573C=
ENST00000473610.5:n.591C=
ENST00000532957.5:n.1509C=
NM_000238.3:c.1286C= , LRG_288t1:c.1286C=	NP_000229.1:p.Ala429=
NM_001204798.1:c.266C=	NP_001191727.1:p.Ala89=
NM_172056.2:c.1286C= , LRG_288t2:c.1286C=	NP_742053.1:p.Ala429=
NM_172057.2:c.266C= , LRG_288t3:c.266C=	NP_742054.1:p.Ala89=
XM_011516185.1:c.986C=	XP_011514487.1:p.Ala329=
XM_011516186.1:c.1286C=	XP_011514488.1:p.Ala429=
XM_011516185.2:c.986C=	XP_011514487.1:p.Ala329=
XM_011516186.3:c.1286C=	XP_011514488.1:p.Ala429=
XM_017012195.1:c.1136C=	XP_016867684.1:p.Ala379=
XM_017012196.1:c.1109C=	XP_016867685.1:p.Ala370=
NM_000238.4:c.1286C= MANE Select	NP_000229.1:p.Ala429=
NM_001204798.2:c.266C=	NP_001191727.1:p.Ala89=
NM_172057.3:c.266C=	NP_742054.1:p.Ala89=