Canonical Allele Identifier: CA1752416568

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957278G= , CM000669.2:g.150957278G=	GRCh38
NC_000007.13:g.150654366G= , CM000669.1:g.150654366G=	GRCh37
NC_000007.12:g.150285299G=	NCBI36
NG_008916.1:g.25649C= , LRG_288:g.25649C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1961+13C=
ENST00000262186.10:c.1128+13C= MANE Select	ENSP00000262186.5:n.1128+13C=
ENST00000262186.9:c.1128+13C=	ENSP00000262186.5:n.1128+13C=
ENST00000430723.4:c.780+13C=	ENSP00000387657.4:n.780+13C=
ENST00000532957.5:n.1351+13C=
NM_000238.3:c.1128+13C= , LRG_288t1:c.1128+13C=	NP_000229.1:n.1128+13C=
NM_172056.2:c.1128+13C= , LRG_288t2:c.1128+13C=	NP_742053.1:n.1128+13C=
XM_011516185.1:c.828+13C=	XP_011514487.1:n.828+13C=
XM_011516186.1:c.1128+13C=	XP_011514488.1:n.1128+13C=
XM_011516185.2:c.828+13C=	XP_011514487.1:n.828+13C=
XM_011516186.3:c.1128+13C=	XP_011514488.1:n.1128+13C=
XM_017012195.1:c.978+13C=	XP_016867684.1:n.978+13C=
XM_017012196.1:c.951+13C=	XP_016867685.1:n.951+13C=
NM_000238.4:c.1128+13C= MANE Select	NP_000229.1:n.1128+13C=