Canonical Allele Identifier: CA1752412187

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952757C= , CM000669.2:g.150952757C=	GRCh38
NC_000007.13:g.150649845C= , CM000669.1:g.150649845C=	GRCh37
NC_000007.12:g.150280778C=	NCBI36
NG_008916.1:g.30170G= , LRG_288:g.30170G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.523G=
ENST00000684116.1:n.118G=
ENST00000684241.1:n.2058G=
ENST00000262186.10:c.1225G= MANE Select	ENSP00000262186.5:p.Val409=
ENST00000330883.9:c.205G=	ENSP00000328531.4:p.Val69=
ENST00000262186.9:c.1225G=	ENSP00000262186.5:p.Val409=
ENST00000330883.8:c.205G=	ENSP00000328531.4:p.Val69=
ENST00000430723.4:c.877G=	ENSP00000387657.4:p.Val293=
ENST00000461280.1:n.512G=
ENST00000473610.5:n.530G=
ENST00000532957.5:n.1448G=
NM_000238.3:c.1225G= , LRG_288t1:c.1225G=	NP_000229.1:p.Val409=
NM_001204798.1:c.205G=	NP_001191727.1:p.Val69=
NM_172056.2:c.1225G= , LRG_288t2:c.1225G=	NP_742053.1:p.Val409=
NM_172057.2:c.205G= , LRG_288t3:c.205G=	NP_742054.1:p.Val69=
XM_011516185.1:c.925G=	XP_011514487.1:p.Val309=
XM_011516186.1:c.1225G=	XP_011514488.1:p.Val409=
XM_011516185.2:c.925G=	XP_011514487.1:p.Val309=
XM_011516186.3:c.1225G=	XP_011514488.1:p.Val409=
XM_017012195.1:c.1075G=	XP_016867684.1:p.Val359=
XM_017012196.1:c.1048G=	XP_016867685.1:p.Val350=
NM_000238.4:c.1225G= MANE Select	NP_000229.1:p.Val409=
NM_001204798.2:c.205G=	NP_001191727.1:p.Val69=
NM_172057.3:c.205G=	NP_742054.1:p.Val69=