Canonical Allele Identifier: CA1752432732

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949921G= , CM000669.2:g.150949921G=	GRCh38
NC_000007.13:g.150647009G= , CM000669.1:g.150647009G=	GRCh37
NC_000007.12:g.150277942G=	NCBI36
NG_008916.1:g.33006C= , LRG_288:g.33006C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1943C=
ENST00000684241.1:n.3231+247C=
ENST00000262186.10:c.2398+247C= MANE Select	ENSP00000262186.5:n.2398+247C=
ENST00000330883.9:c.1378+247C=	ENSP00000328531.4:n.1378+247C=
ENST00000262186.9:c.2398+247C=	ENSP00000262186.5:n.2398+247C=
ENST00000330883.8:c.1378+247C=	ENSP00000328531.4:n.1378+247C=
ENST00000430723.4:c.2297C=	ENSP00000387657.4:p.Thr766=
ENST00000461280.1:n.1932C=
ENST00000473610.5:n.2277C=
ENST00000532957.5:n.2868C=
NM_000238.3:c.2398+247C= , LRG_288t1:c.2398+247C=	NP_000229.1:n.2398+247C=
NM_001204798.1:c.1625C=	NP_001191727.1:p.Thr542=
NM_172056.2:c.2645C= , LRG_288t2:c.2645C=	NP_742053.1:p.Thr882=
NM_172057.2:c.1378+247C= , LRG_288t3:c.1378+247C=	NP_742054.1:n.1378+247C=
XM_011516185.1:c.2098+247C=	XP_011514487.1:n.2098+247C=
XM_011516186.1:c.2398+247C=	XP_011514488.1:n.2398+247C=
XM_011516185.2:c.2098+247C=	XP_011514487.1:n.2098+247C=
XM_011516186.3:c.2398+247C=	XP_011514488.1:n.2398+247C=
XM_017012195.1:c.2248+247C=	XP_016867684.1:n.2248+247C=
XM_017012196.1:c.2221+247C=	XP_016867685.1:n.2221+247C=
NM_000238.4:c.2398+247C= MANE Select	NP_000229.1:n.2398+247C=
NM_001204798.2:c.1625C=	NP_001191727.1:p.Thr542=
NM_172057.3:c.1378+247C=	NP_742054.1:n.1378+247C=