Canonical Allele Identifier: CA1752434266

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951019A= , CM000669.2:g.150951019A=	GRCh38
NC_000007.13:g.150648107A= , CM000669.1:g.150648107A=	GRCh37
NC_000007.12:g.150279040A=	NCBI36
NG_008916.1:g.31908T= , LRG_288:g.31908T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1345T=
ENST00000683359.1:n.171T=
ENST00000684241.1:n.2880T=
ENST00000262186.10:c.2047T= MANE Select	ENSP00000262186.5:p.Phe683=
ENST00000330883.9:c.1027T=	ENSP00000328531.4:p.Phe343=
ENST00000262186.9:c.2047T=	ENSP00000262186.5:p.Phe683=
ENST00000330883.8:c.1027T=	ENSP00000328531.4:p.Phe343=
ENST00000430723.4:c.1699T=	ENSP00000387657.4:p.Phe567=
ENST00000461280.1:n.1334T=
ENST00000473610.5:n.1679T=
ENST00000532957.5:n.2270T=
NM_000238.3:c.2047T= , LRG_288t1:c.2047T=	NP_000229.1:p.Phe683=
NM_001204798.1:c.1027T=	NP_001191727.1:p.Phe343=
NM_172056.2:c.2047T= , LRG_288t2:c.2047T=	NP_742053.1:p.Phe683=
NM_172057.2:c.1027T= , LRG_288t3:c.1027T=	NP_742054.1:p.Phe343=
XM_011516185.1:c.1747T=	XP_011514487.1:p.Phe583=
XM_011516186.1:c.2047T=	XP_011514488.1:p.Phe683=
XM_011516185.2:c.1747T=	XP_011514487.1:p.Phe583=
XM_011516186.3:c.2047T=	XP_011514488.1:p.Phe683=
XM_017012195.1:c.1897T=	XP_016867684.1:p.Phe633=
XM_017012196.1:c.1870T=	XP_016867685.1:p.Phe624=
NM_000238.4:c.2047T= MANE Select	NP_000229.1:p.Phe683=
NM_001204798.2:c.1027T=	NP_001191727.1:p.Phe343=
NM_172057.3:c.1027T=	NP_742054.1:p.Phe343=