Canonical Allele Identifier: CA1752409637

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951519A= , CM000669.2:g.150951519A=	GRCh38
NC_000007.13:g.150648607A= , CM000669.1:g.150648607A=	GRCh37
NC_000007.12:g.150279540A=	NCBI36
NG_008916.1:g.31408T= , LRG_288:g.31408T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1874T= MANE Select	NP_000229.1:p.Val625=
ENST00000262186.10:c.1874T= MANE Select	ENSP00000262186.5:p.Val625=
NM_000238.3:c.1874T= , LRG_288t1:c.1874T=	NP_000229.1:p.Val625=
NM_001204798.1:c.854T=	NP_001191727.1:p.Val285=
NM_001204798.2:c.854T=	NP_001191727.1:p.Val285=
NM_172056.2:c.1874T= , LRG_288t2:c.1874T=	NP_742053.1:p.Val625=
NM_172057.2:c.854T= , LRG_288t3:c.854T=	NP_742054.1:p.Val285=
NM_172057.3:c.854T=	NP_742054.1:p.Val285=
ENST00000262186.9:c.1874T=	ENSP00000262186.5:p.Val625=
ENST00000330883.8:c.854T=	ENSP00000328531.4:p.Val285=
ENST00000330883.9:c.854T=	ENSP00000328531.4:p.Val285=
ENST00000430723.4:c.1526T=	ENSP00000387657.4:p.Val509=
ENST00000461280.1:n.1161T=
ENST00000461280.2:n.1172T=
ENST00000473610.5:n.1179T=
ENST00000532957.5:n.2097T=
ENST00000684241.1:n.2707T=
XM_011516185.1:c.1574T=	XP_011514487.1:p.Val525=
XM_011516185.2:c.1574T=	XP_011514487.1:p.Val525=
XM_011516186.1:c.1874T=	XP_011514488.1:p.Val625=
XM_011516186.3:c.1874T=	XP_011514488.1:p.Val625=
XM_017012195.1:c.1724T=	XP_016867684.1:p.Val575=
XM_017012196.1:c.1697T=	XP_016867685.1:p.Val566=