Canonical Allele Identifier: CA1752434894

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951430G= , CM000669.2:g.150951430G=	GRCh38
NC_000007.13:g.150648518G= , CM000669.1:g.150648518G=	GRCh37
NC_000007.12:g.150279451G=	NCBI36
NG_008916.1:g.31497C= , LRG_288:g.31497C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1243+18C=
ENST00000683359.1:n.69+18C=
ENST00000684241.1:n.2778+18C=
ENST00000262186.10:c.1945+18C= MANE Select	ENSP00000262186.5:n.1945+18C=
ENST00000330883.9:c.925+18C=	ENSP00000328531.4:n.925+18C=
ENST00000262186.9:c.1945+18C=	ENSP00000262186.5:n.1945+18C=
ENST00000330883.8:c.925+18C=	ENSP00000328531.4:n.925+18C=
ENST00000430723.4:c.1597+18C=	ENSP00000387657.4:n.1597+18C=
ENST00000461280.1:n.1232+18C=
ENST00000473610.5:n.1268C=
ENST00000532957.5:n.2168+18C=
NM_000238.3:c.1945+18C= , LRG_288t1:c.1945+18C=	NP_000229.1:n.1945+18C=
NM_001204798.1:c.925+18C=	NP_001191727.1:n.925+18C=
NM_172056.2:c.1945+18C= , LRG_288t2:c.1945+18C=	NP_742053.1:n.1945+18C=
NM_172057.2:c.925+18C= , LRG_288t3:c.925+18C=	NP_742054.1:n.925+18C=
XM_011516185.1:c.1645+18C=	XP_011514487.1:n.1645+18C=
XM_011516186.1:c.1945+18C=	XP_011514488.1:n.1945+18C=
XM_011516185.2:c.1645+18C=	XP_011514487.1:n.1645+18C=
XM_011516186.3:c.1945+18C=	XP_011514488.1:n.1945+18C=
XM_017012195.1:c.1795+18C=	XP_016867684.1:n.1795+18C=
XM_017012196.1:c.1768+18C=	XP_016867685.1:n.1768+18C=
NM_000238.4:c.1945+18C= MANE Select	NP_000229.1:n.1945+18C=
NM_001204798.2:c.925+18C=	NP_001191727.1:n.925+18C=
NM_172057.3:c.925+18C=	NP_742054.1:n.925+18C=