Canonical Allele Identifier: CA1752411799

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952574T= , CM000669.2:g.150952574T=	GRCh38
NC_000007.13:g.150649662T= , CM000669.1:g.150649662T=	GRCh37
NC_000007.12:g.150280595T=	NCBI36
NG_008916.1:g.30353A= , LRG_288:g.30353A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.706A=
ENST00000684116.1:n.301A=
ENST00000684241.1:n.2241A=
ENST00000262186.10:c.1408A= MANE Select	ENSP00000262186.5:p.Asn470=
ENST00000330883.9:c.388A=	ENSP00000328531.4:p.Asn130=
ENST00000262186.9:c.1408A=	ENSP00000262186.5:p.Asn470=
ENST00000330883.8:c.388A=	ENSP00000328531.4:p.Asn130=
ENST00000430723.4:c.1060A=	ENSP00000387657.4:p.Asn354=
ENST00000461280.1:n.695A=
ENST00000473610.5:n.713A=
ENST00000532957.5:n.1631A=
NM_000238.3:c.1408A= , LRG_288t1:c.1408A=	NP_000229.1:p.Asn470=
NM_001204798.1:c.388A=	NP_001191727.1:p.Asn130=
NM_172056.2:c.1408A= , LRG_288t2:c.1408A=	NP_742053.1:p.Asn470=
NM_172057.2:c.388A= , LRG_288t3:c.388A=	NP_742054.1:p.Asn130=
XM_011516185.1:c.1108A=	XP_011514487.1:p.Asn370=
XM_011516186.1:c.1408A=	XP_011514488.1:p.Asn470=
XM_011516185.2:c.1108A=	XP_011514487.1:p.Asn370=
XM_011516186.3:c.1408A=	XP_011514488.1:p.Asn470=
XM_017012195.1:c.1258A=	XP_016867684.1:p.Asn420=
XM_017012196.1:c.1231A=	XP_016867685.1:p.Asn411=
NM_000238.4:c.1408A= MANE Select	NP_000229.1:p.Asn470=
NM_001204798.2:c.388A=	NP_001191727.1:p.Asn130=
NM_172057.3:c.388A=	NP_742054.1:p.Asn130=