Canonical Allele Identifier: CA1752412051

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952699G= , CM000669.2:g.150952699G=	GRCh38
NC_000007.13:g.150649787G= , CM000669.1:g.150649787G=	GRCh37
NC_000007.12:g.150280720G=	NCBI36
NG_008916.1:g.30228C= , LRG_288:g.30228C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.581C=
ENST00000684116.1:n.176C=
ENST00000684241.1:n.2116C=
ENST00000262186.10:c.1283C= MANE Select	ENSP00000262186.5:p.Ser428=
ENST00000330883.9:c.263C=	ENSP00000328531.4:p.Ser88=
ENST00000262186.9:c.1283C=	ENSP00000262186.5:p.Ser428=
ENST00000330883.8:c.263C=	ENSP00000328531.4:p.Ser88=
ENST00000430723.4:c.935C=	ENSP00000387657.4:p.Ser312=
ENST00000461280.1:n.570C=
ENST00000473610.5:n.588C=
ENST00000532957.5:n.1506C=
NM_000238.3:c.1283C= , LRG_288t1:c.1283C=	NP_000229.1:p.Ser428=
NM_001204798.1:c.263C=	NP_001191727.1:p.Ser88=
NM_172056.2:c.1283C= , LRG_288t2:c.1283C=	NP_742053.1:p.Ser428=
NM_172057.2:c.263C= , LRG_288t3:c.263C=	NP_742054.1:p.Ser88=
XM_011516185.1:c.983C=	XP_011514487.1:p.Ser328=
XM_011516186.1:c.1283C=	XP_011514488.1:p.Ser428=
XM_011516185.2:c.983C=	XP_011514487.1:p.Ser328=
XM_011516186.3:c.1283C=	XP_011514488.1:p.Ser428=
XM_017012195.1:c.1133C=	XP_016867684.1:p.Ser378=
XM_017012196.1:c.1106C=	XP_016867685.1:p.Ser369=
NM_000238.4:c.1283C= MANE Select	NP_000229.1:p.Ser428=
NM_001204798.2:c.263C=	NP_001191727.1:p.Ser88=
NM_172057.3:c.263C=	NP_742054.1:p.Ser88=