Canonical Allele Identifier: CA1752433399

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950223G= , CM000669.2:g.150950223G=	GRCh38
NC_000007.13:g.150647311G= , CM000669.1:g.150647311G=	GRCh37
NC_000007.12:g.150278244G=	NCBI36
NG_008916.1:g.32704C= , LRG_288:g.32704C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1641C=
ENST00000684241.1:n.3176C=
ENST00000262186.10:c.2343C= MANE Select	ENSP00000262186.5:p.Phe781=
ENST00000330883.9:c.1323C=	ENSP00000328531.4:p.Phe441=
ENST00000262186.9:c.2343C=	ENSP00000262186.5:p.Phe781=
ENST00000330883.8:c.1323C=	ENSP00000328531.4:p.Phe441=
ENST00000430723.4:c.1995C=	ENSP00000387657.4:p.Phe665=
ENST00000461280.1:n.1630C=
ENST00000473610.5:n.1975C=
ENST00000532957.5:n.2566C=
NM_000238.3:c.2343C= , LRG_288t1:c.2343C=	NP_000229.1:p.Phe781=
NM_001204798.1:c.1323C=	NP_001191727.1:p.Phe441=
NM_172056.2:c.2343C= , LRG_288t2:c.2343C=	NP_742053.1:p.Phe781=
NM_172057.2:c.1323C= , LRG_288t3:c.1323C=	NP_742054.1:p.Phe441=
XM_011516185.1:c.2043C=	XP_011514487.1:p.Phe681=
XM_011516186.1:c.2343C=	XP_011514488.1:p.Phe781=
XM_011516185.2:c.2043C=	XP_011514487.1:p.Phe681=
XM_011516186.3:c.2343C=	XP_011514488.1:p.Phe781=
XM_017012195.1:c.2193C=	XP_016867684.1:p.Phe731=
XM_017012196.1:c.2166C=	XP_016867685.1:p.Phe722=
NM_000238.4:c.2343C= MANE Select	NP_000229.1:p.Phe781=
NM_001204798.2:c.1323C=	NP_001191727.1:p.Phe441=
NM_172057.3:c.1323C=	NP_742054.1:p.Phe441=