Canonical Allele Identifier: CA1752411803

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952575G= , CM000669.2:g.150952575G=	GRCh38
NC_000007.13:g.150649663G= , CM000669.1:g.150649663G=	GRCh37
NC_000007.12:g.150280596G=	NCBI36
NG_008916.1:g.30352C= , LRG_288:g.30352C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.705C=
ENST00000684116.1:n.300C=
ENST00000684241.1:n.2240C=
ENST00000262186.10:c.1407C= MANE Select	ENSP00000262186.5:p.Ile469=
ENST00000330883.9:c.387C=	ENSP00000328531.4:p.Ile129=
ENST00000262186.9:c.1407C=	ENSP00000262186.5:p.Ile469=
ENST00000330883.8:c.387C=	ENSP00000328531.4:p.Ile129=
ENST00000430723.4:c.1059C=	ENSP00000387657.4:p.Ile353=
ENST00000461280.1:n.694C=
ENST00000473610.5:n.712C=
ENST00000532957.5:n.1630C=
NM_000238.3:c.1407C= , LRG_288t1:c.1407C=	NP_000229.1:p.Ile469=
NM_001204798.1:c.387C=	NP_001191727.1:p.Ile129=
NM_172056.2:c.1407C= , LRG_288t2:c.1407C=	NP_742053.1:p.Ile469=
NM_172057.2:c.387C= , LRG_288t3:c.387C=	NP_742054.1:p.Ile129=
XM_011516185.1:c.1107C=	XP_011514487.1:p.Ile369=
XM_011516186.1:c.1407C=	XP_011514488.1:p.Ile469=
XM_011516185.2:c.1107C=	XP_011514487.1:p.Ile369=
XM_011516186.3:c.1407C=	XP_011514488.1:p.Ile469=
XM_017012195.1:c.1257C=	XP_016867684.1:p.Ile419=
XM_017012196.1:c.1230C=	XP_016867685.1:p.Ile410=
NM_000238.4:c.1407C= MANE Select	NP_000229.1:p.Ile469=
NM_001204798.2:c.387C=	NP_001191727.1:p.Ile129=
NM_172057.3:c.387C=	NP_742054.1:p.Ile129=