Canonical Allele Identifier: CA1752409804

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951552G= , CM000669.2:g.150951552G=	GRCh38
NC_000007.13:g.150648640G= , CM000669.1:g.150648640G=	GRCh37
NC_000007.12:g.150279573G=	NCBI36
NG_008916.1:g.31375C= , LRG_288:g.31375C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1139C=
ENST00000684241.1:n.2674C=
ENST00000262186.10:c.1841C= MANE Select	ENSP00000262186.5:p.Ala614=
ENST00000330883.9:c.821C=	ENSP00000328531.4:p.Ala274=
ENST00000262186.9:c.1841C=	ENSP00000262186.5:p.Ala614=
ENST00000330883.8:c.821C=	ENSP00000328531.4:p.Ala274=
ENST00000430723.4:c.1493C=	ENSP00000387657.4:p.Ala498=
ENST00000461280.1:n.1128C=
ENST00000473610.5:n.1146C=
ENST00000532957.5:n.2064C=
NM_000238.3:c.1841C= , LRG_288t1:c.1841C=	NP_000229.1:p.Ala614=
NM_001204798.1:c.821C=	NP_001191727.1:p.Ala274=
NM_172056.2:c.1841C= , LRG_288t2:c.1841C=	NP_742053.1:p.Ala614=
NM_172057.2:c.821C= , LRG_288t3:c.821C=	NP_742054.1:p.Ala274=
XM_011516185.1:c.1541C=	XP_011514487.1:p.Ala514=
XM_011516186.1:c.1841C=	XP_011514488.1:p.Ala614=
XM_011516185.2:c.1541C=	XP_011514487.1:p.Ala514=
XM_011516186.3:c.1841C=	XP_011514488.1:p.Ala614=
XM_017012195.1:c.1691C=	XP_016867684.1:p.Ala564=
XM_017012196.1:c.1664C=	XP_016867685.1:p.Ala555=
NM_000238.4:c.1841C= MANE Select	NP_000229.1:p.Ala614=
NM_001204798.2:c.821C=	NP_001191727.1:p.Ala274=
NM_172057.3:c.821C=	NP_742054.1:p.Ala274=