Canonical Allele Identifier: CA1752409284

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951470G= , CM000669.2:g.150951470G=	GRCh38
NC_000007.13:g.150648558G= , CM000669.1:g.150648558G=	GRCh37
NC_000007.12:g.150279491G=	NCBI36
NG_008916.1:g.31457C= , LRG_288:g.31457C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1221C=
ENST00000683359.1:n.47C=
ENST00000684241.1:n.2756C=
ENST00000262186.10:c.1923C= MANE Select	ENSP00000262186.5:p.Ser641=
ENST00000330883.9:c.903C=	ENSP00000328531.4:p.Ser301=
ENST00000262186.9:c.1923C=	ENSP00000262186.5:p.Ser641=
ENST00000330883.8:c.903C=	ENSP00000328531.4:p.Ser301=
ENST00000430723.4:c.1575C=	ENSP00000387657.4:p.Ser525=
ENST00000461280.1:n.1210C=
ENST00000473610.5:n.1228C=
ENST00000532957.5:n.2146C=
NM_000238.3:c.1923C= , LRG_288t1:c.1923C=	NP_000229.1:p.Ser641=
NM_001204798.1:c.903C=	NP_001191727.1:p.Ser301=
NM_172056.2:c.1923C= , LRG_288t2:c.1923C=	NP_742053.1:p.Ser641=
NM_172057.2:c.903C= , LRG_288t3:c.903C=	NP_742054.1:p.Ser301=
XM_011516185.1:c.1623C=	XP_011514487.1:p.Ser541=
XM_011516186.1:c.1923C=	XP_011514488.1:p.Ser641=
XM_011516185.2:c.1623C=	XP_011514487.1:p.Ser541=
XM_011516186.3:c.1923C=	XP_011514488.1:p.Ser641=
XM_017012195.1:c.1773C=	XP_016867684.1:p.Ser591=
XM_017012196.1:c.1746C=	XP_016867685.1:p.Ser582=
NM_000238.4:c.1923C= MANE Select	NP_000229.1:p.Ser641=
NM_001204798.2:c.903C=	NP_001191727.1:p.Ser301=
NM_172057.3:c.903C=	NP_742054.1:p.Ser301=