Canonical Allele Identifier: CA1752412063

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952701G= , CM000669.2:g.150952701G=	GRCh38
NC_000007.13:g.150649789G= , CM000669.1:g.150649789G=	GRCh37
NC_000007.12:g.150280722G=	NCBI36
NG_008916.1:g.30226C= , LRG_288:g.30226C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.579C=
ENST00000684116.1:n.174C=
ENST00000684241.1:n.2114C=
ENST00000262186.10:c.1281C= MANE Select	ENSP00000262186.5:p.Tyr427=
ENST00000330883.9:c.261C=	ENSP00000328531.4:p.Tyr87=
ENST00000262186.9:c.1281C=	ENSP00000262186.5:p.Tyr427=
ENST00000330883.8:c.261C=	ENSP00000328531.4:p.Tyr87=
ENST00000430723.4:c.933C=	ENSP00000387657.4:p.Tyr311=
ENST00000461280.1:n.568C=
ENST00000473610.5:n.586C=
ENST00000532957.5:n.1504C=
NM_000238.3:c.1281C= , LRG_288t1:c.1281C=	NP_000229.1:p.Tyr427=
NM_001204798.1:c.261C=	NP_001191727.1:p.Tyr87=
NM_172056.2:c.1281C= , LRG_288t2:c.1281C=	NP_742053.1:p.Tyr427=
NM_172057.2:c.261C= , LRG_288t3:c.261C=	NP_742054.1:p.Tyr87=
XM_011516185.1:c.981C=	XP_011514487.1:p.Tyr327=
XM_011516186.1:c.1281C=	XP_011514488.1:p.Tyr427=
XM_011516185.2:c.981C=	XP_011514487.1:p.Tyr327=
XM_011516186.3:c.1281C=	XP_011514488.1:p.Tyr427=
XM_017012195.1:c.1131C=	XP_016867684.1:p.Tyr377=
XM_017012196.1:c.1104C=	XP_016867685.1:p.Tyr368=
NM_000238.4:c.1281C= MANE Select	NP_000229.1:p.Tyr427=
NM_001204798.2:c.261C=	NP_001191727.1:p.Tyr87=
NM_172057.3:c.261C=	NP_742054.1:p.Tyr87=