Canonical Allele Identifier: CA1752417845
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958108C= , CM000669.2:g.150958108C= GRCh38
NC_000007.13:g.150655196C= , CM000669.1:g.150655196C= GRCh37
NC_000007.12:g.150286129C= NCBI36
NG_008916.1:g.24819G= , LRG_288:g.24819G=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1700G=
ENST00000262186.10:c.867G= MANE Select ENSP00000262186.5:p.Glu289=
ENST00000262186.9:c.867G= ENSP00000262186.5:p.Glu289=
ENST00000430723.4:c.519G= ENSP00000387657.4:p.Glu173=
ENST00000532957.5:n.1090G=
NM_000238.3:c.867G= , LRG_288t1:c.867G= NP_000229.1:p.Glu289=
NM_172056.2:c.867G= , LRG_288t2:c.867G= NP_742053.1:p.Glu289=
XM_011516185.1:c.567G= XP_011514487.1:p.Glu189=
XM_011516186.1:c.867G= XP_011514488.1:p.Glu289=
XM_011516185.2:c.567G= XP_011514487.1:p.Glu189=
XM_011516186.3:c.867G= XP_011514488.1:p.Glu289=
XM_017012195.1:c.717G= XP_016867684.1:p.Glu239=
XM_017012196.1:c.690G= XP_016867685.1:p.Glu230=
NM_000238.4:c.867G= MANE Select NP_000229.1:p.Glu289=