Canonical Allele Identifier: CA1752433644
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150950365C= , CM000669.2:g.150950365C= GRCh38
NC_000007.13:g.150647453C= , CM000669.1:g.150647453C= GRCh37
NC_000007.12:g.150278386C= NCBI36
NG_008916.1:g.32562G= , LRG_288:g.32562G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000461280.2:n.1499G=
ENST00000684241.1:n.3034G=
ENST00000262186.10:c.2201G= MANE Select ENSP00000262186.5:p.Arg734=
ENST00000330883.9:c.1181G= ENSP00000328531.4:p.Arg394=
ENST00000262186.9:c.2201G= ENSP00000262186.5:p.Arg734=
ENST00000330883.8:c.1181G= ENSP00000328531.4:p.Arg394=
ENST00000430723.4:c.1853G= ENSP00000387657.4:p.Arg618=
ENST00000461280.1:n.1488G=
ENST00000473610.5:n.1833G=
ENST00000532957.5:n.2424G=
NM_000238.3:c.2201G= , LRG_288t1:c.2201G= NP_000229.1:p.Arg734=
NM_001204798.1:c.1181G= NP_001191727.1:p.Arg394=
NM_172056.2:c.2201G= , LRG_288t2:c.2201G= NP_742053.1:p.Arg734=
NM_172057.2:c.1181G= , LRG_288t3:c.1181G= NP_742054.1:p.Arg394=
XM_011516185.1:c.1901G= XP_011514487.1:p.Arg634=
XM_011516186.1:c.2201G= XP_011514488.1:p.Arg734=
XM_011516185.2:c.1901G= XP_011514487.1:p.Arg634=
XM_011516186.3:c.2201G= XP_011514488.1:p.Arg734=
XM_017012195.1:c.2051G= XP_016867684.1:p.Arg684=
XM_017012196.1:c.2024G= XP_016867685.1:p.Arg675=
NM_000238.4:c.2201G= MANE Select NP_000229.1:p.Arg734=
NM_001204798.2:c.1181G= NP_001191727.1:p.Arg394=
NM_172057.3:c.1181G= NP_742054.1:p.Arg394=