Canonical Allele Identifier: CA1752433423

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950240G= , CM000669.2:g.150950240G=	GRCh38
NC_000007.13:g.150647328G= , CM000669.1:g.150647328G=	GRCh37
NC_000007.12:g.150278261G=	NCBI36
NG_008916.1:g.32687C= , LRG_288:g.32687C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1624C=
ENST00000684241.1:n.3159C=
ENST00000262186.10:c.2326C= MANE Select	ENSP00000262186.5:p.Leu776=
ENST00000330883.9:c.1306C=	ENSP00000328531.4:p.Leu436=
ENST00000262186.9:c.2326C=	ENSP00000262186.5:p.Leu776=
ENST00000330883.8:c.1306C=	ENSP00000328531.4:p.Leu436=
ENST00000430723.4:c.1978C=	ENSP00000387657.4:p.Leu660=
ENST00000461280.1:n.1613C=
ENST00000473610.5:n.1958C=
ENST00000532957.5:n.2549C=
NM_000238.3:c.2326C= , LRG_288t1:c.2326C=	NP_000229.1:p.Leu776=
NM_001204798.1:c.1306C=	NP_001191727.1:p.Leu436=
NM_172056.2:c.2326C= , LRG_288t2:c.2326C=	NP_742053.1:p.Leu776=
NM_172057.2:c.1306C= , LRG_288t3:c.1306C=	NP_742054.1:p.Leu436=
XM_011516185.1:c.2026C=	XP_011514487.1:p.Leu676=
XM_011516186.1:c.2326C=	XP_011514488.1:p.Leu776=
XM_011516185.2:c.2026C=	XP_011514487.1:p.Leu676=
XM_011516186.3:c.2326C=	XP_011514488.1:p.Leu776=
XM_017012195.1:c.2176C=	XP_016867684.1:p.Leu726=
XM_017012196.1:c.2149C=	XP_016867685.1:p.Leu717=
NM_000238.4:c.2326C= MANE Select	NP_000229.1:p.Leu776=
NM_001204798.2:c.1306C=	NP_001191727.1:p.Leu436=
NM_172057.3:c.1306C=	NP_742054.1:p.Leu436=