Canonical Allele Identifier: CA1752412201

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952761C= , CM000669.2:g.150952761C=	GRCh38
NC_000007.13:g.150649849C= , CM000669.1:g.150649849C=	GRCh37
NC_000007.12:g.150280782C=	NCBI36
NG_008916.1:g.30166G= , LRG_288:g.30166G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.519G=
ENST00000684116.1:n.114G=
ENST00000684241.1:n.2054G=
ENST00000262186.10:c.1221G= MANE Select	ENSP00000262186.5:p.Lys407=
ENST00000330883.9:c.201G=	ENSP00000328531.4:p.Lys67=
ENST00000262186.9:c.1221G=	ENSP00000262186.5:p.Lys407=
ENST00000330883.8:c.201G=	ENSP00000328531.4:p.Lys67=
ENST00000430723.4:c.873G=	ENSP00000387657.4:p.Lys291=
ENST00000461280.1:n.508G=
ENST00000473610.5:n.526G=
ENST00000532957.5:n.1444G=
NM_000238.3:c.1221G= , LRG_288t1:c.1221G=	NP_000229.1:p.Lys407=
NM_001204798.1:c.201G=	NP_001191727.1:p.Lys67=
NM_172056.2:c.1221G= , LRG_288t2:c.1221G=	NP_742053.1:p.Lys407=
NM_172057.2:c.201G= , LRG_288t3:c.201G=	NP_742054.1:p.Lys67=
XM_011516185.1:c.921G=	XP_011514487.1:p.Lys307=
XM_011516186.1:c.1221G=	XP_011514488.1:p.Lys407=
XM_011516185.2:c.921G=	XP_011514487.1:p.Lys307=
XM_011516186.3:c.1221G=	XP_011514488.1:p.Lys407=
XM_017012195.1:c.1071G=	XP_016867684.1:p.Lys357=
XM_017012196.1:c.1044G=	XP_016867685.1:p.Lys348=
NM_000238.4:c.1221G= MANE Select	NP_000229.1:p.Lys407=
NM_001204798.2:c.201G=	NP_001191727.1:p.Lys67=
NM_172057.3:c.201G=	NP_742054.1:p.Lys67=