Canonical Allele Identifier: CA1752411812

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952579A= , CM000669.2:g.150952579A=	GRCh38
NC_000007.13:g.150649667A= , CM000669.1:g.150649667A=	GRCh37
NC_000007.12:g.150280600A=	NCBI36
NG_008916.1:g.30348T= , LRG_288:g.30348T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.701T=
ENST00000684116.1:n.296T=
ENST00000684241.1:n.2236T=
ENST00000262186.10:c.1403T= MANE Select	ENSP00000262186.5:p.Leu468=
ENST00000330883.9:c.383T=	ENSP00000328531.4:p.Leu128=
ENST00000262186.9:c.1403T=	ENSP00000262186.5:p.Leu468=
ENST00000330883.8:c.383T=	ENSP00000328531.4:p.Leu128=
ENST00000430723.4:c.1055T=	ENSP00000387657.4:p.Leu352=
ENST00000461280.1:n.690T=
ENST00000473610.5:n.708T=
ENST00000532957.5:n.1626T=
NM_000238.3:c.1403T= , LRG_288t1:c.1403T=	NP_000229.1:p.Leu468=
NM_001204798.1:c.383T=	NP_001191727.1:p.Leu128=
NM_172056.2:c.1403T= , LRG_288t2:c.1403T=	NP_742053.1:p.Leu468=
NM_172057.2:c.383T= , LRG_288t3:c.383T=	NP_742054.1:p.Leu128=
XM_011516185.1:c.1103T=	XP_011514487.1:p.Leu368=
XM_011516186.1:c.1403T=	XP_011514488.1:p.Leu468=
XM_011516185.2:c.1103T=	XP_011514487.1:p.Leu368=
XM_011516186.3:c.1403T=	XP_011514488.1:p.Leu468=
XM_017012195.1:c.1253T=	XP_016867684.1:p.Leu418=
XM_017012196.1:c.1226T=	XP_016867685.1:p.Leu409=
NM_000238.4:c.1403T= MANE Select	NP_000229.1:p.Leu468=
NM_001204798.2:c.383T=	NP_001191727.1:p.Leu128=
NM_172057.3:c.383T=	NP_742054.1:p.Leu128=