Canonical Allele Identifier: CA1752409597

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951512G= , CM000669.2:g.150951512G=	GRCh38
NC_000007.13:g.150648600G= , CM000669.1:g.150648600G=	GRCh37
NC_000007.12:g.150279533G=	NCBI36
NG_008916.1:g.31415C= , LRG_288:g.31415C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1179C=
ENST00000683359.1:n.5C=
ENST00000684241.1:n.2714C=
ENST00000262186.10:c.1881C= MANE Select	ENSP00000262186.5:p.Phe627=
ENST00000330883.9:c.861C=	ENSP00000328531.4:p.Phe287=
ENST00000262186.9:c.1881C=	ENSP00000262186.5:p.Phe627=
ENST00000330883.8:c.861C=	ENSP00000328531.4:p.Phe287=
ENST00000430723.4:c.1533C=	ENSP00000387657.4:p.Phe511=
ENST00000461280.1:n.1168C=
ENST00000473610.5:n.1186C=
ENST00000532957.5:n.2104C=
NM_000238.3:c.1881C= , LRG_288t1:c.1881C=	NP_000229.1:p.Phe627=
NM_001204798.1:c.861C=	NP_001191727.1:p.Phe287=
NM_172056.2:c.1881C= , LRG_288t2:c.1881C=	NP_742053.1:p.Phe627=
NM_172057.2:c.861C= , LRG_288t3:c.861C=	NP_742054.1:p.Phe287=
XM_011516185.1:c.1581C=	XP_011514487.1:p.Phe527=
XM_011516186.1:c.1881C=	XP_011514488.1:p.Phe627=
XM_011516185.2:c.1581C=	XP_011514487.1:p.Phe527=
XM_011516186.3:c.1881C=	XP_011514488.1:p.Phe627=
XM_017012195.1:c.1731C=	XP_016867684.1:p.Phe577=
XM_017012196.1:c.1704C=	XP_016867685.1:p.Phe568=
NM_000238.4:c.1881C= MANE Select	NP_000229.1:p.Phe627=
NM_001204798.2:c.861C=	NP_001191727.1:p.Phe287=
NM_172057.3:c.861C=	NP_742054.1:p.Phe287=