Canonical Allele Identifier: CA1752409782

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951548G= , CM000669.2:g.150951548G=	GRCh38
NC_000007.13:g.150648636G= , CM000669.1:g.150648636G=	GRCh37
NC_000007.12:g.150279569G=	NCBI36
NG_008916.1:g.31379C= , LRG_288:g.31379C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1143C=
ENST00000684241.1:n.2678C=
ENST00000262186.10:c.1845C= MANE Select	ENSP00000262186.5:p.Leu615=
ENST00000330883.9:c.825C=	ENSP00000328531.4:p.Leu275=
ENST00000262186.9:c.1845C=	ENSP00000262186.5:p.Leu615=
ENST00000330883.8:c.825C=	ENSP00000328531.4:p.Leu275=
ENST00000430723.4:c.1497C=	ENSP00000387657.4:p.Leu499=
ENST00000461280.1:n.1132C=
ENST00000473610.5:n.1150C=
ENST00000532957.5:n.2068C=
NM_000238.3:c.1845C= , LRG_288t1:c.1845C=	NP_000229.1:p.Leu615=
NM_001204798.1:c.825C=	NP_001191727.1:p.Leu275=
NM_172056.2:c.1845C= , LRG_288t2:c.1845C=	NP_742053.1:p.Leu615=
NM_172057.2:c.825C= , LRG_288t3:c.825C=	NP_742054.1:p.Leu275=
XM_011516185.1:c.1545C=	XP_011514487.1:p.Leu515=
XM_011516186.1:c.1845C=	XP_011514488.1:p.Leu615=
XM_011516185.2:c.1545C=	XP_011514487.1:p.Leu515=
XM_011516186.3:c.1845C=	XP_011514488.1:p.Leu615=
XM_017012195.1:c.1695C=	XP_016867684.1:p.Leu565=
XM_017012196.1:c.1668C=	XP_016867685.1:p.Leu556=
NM_000238.4:c.1845C= MANE Select	NP_000229.1:p.Leu615=
NM_001204798.2:c.825C=	NP_001191727.1:p.Leu275=
NM_172057.3:c.825C=	NP_742054.1:p.Leu275=