Canonical Allele Identifier: CA1752417663
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958050C= , CM000669.2:g.150958050C= GRCh38
NC_000007.13:g.150655138C= , CM000669.1:g.150655138C= GRCh37
NC_000007.12:g.150286071C= NCBI36
NG_008916.1:g.24877G= , LRG_288:g.24877G=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1749+9G=
ENST00000262186.10:c.916+9G= MANE Select ENSP00000262186.5:n.916+9G=
ENST00000262186.9:c.916+9G= ENSP00000262186.5:n.916+9G=
ENST00000430723.4:c.568+9G= ENSP00000387657.4:n.568+9G=
ENST00000532957.5:n.1139+9G=
NM_000238.3:c.916+9G= , LRG_288t1:c.916+9G= NP_000229.1:n.916+9G=
NM_172056.2:c.916+9G= , LRG_288t2:c.916+9G= NP_742053.1:n.916+9G=
XM_011516185.1:c.616+9G= XP_011514487.1:n.616+9G=
XM_011516186.1:c.916+9G= XP_011514488.1:n.916+9G=
XM_011516185.2:c.616+9G= XP_011514487.1:n.616+9G=
XM_011516186.3:c.916+9G= XP_011514488.1:n.916+9G=
XM_017012195.1:c.766+9G= XP_016867684.1:n.766+9G=
XM_017012196.1:c.739+9G= XP_016867685.1:n.739+9G=
NM_000238.4:c.916+9G= MANE Select NP_000229.1:n.916+9G=