Canonical Allele Identifier: CA1752440849
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974816A= , CM000669.2:g.150974816A= GRCh38
NC_000007.13:g.150671904A= , CM000669.1:g.150671904A= GRCh37
NC_000007.12:g.150302837A= NCBI36
NG_008916.1:g.8111T= , LRG_288:g.8111T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.202T= MANE Select ENSP00000262186.5:p.Phe68=
ENST00000262186.9:c.202T= ENSP00000262186.5:p.Phe68=
ENST00000430723.4:c.25T= ENSP00000387657.4:p.Phe9=
ENST00000532957.5:n.425T=
NM_000238.3:c.202T= , LRG_288t1:c.202T= NP_000229.1:p.Phe68=
NM_172056.2:c.202T= , LRG_288t2:c.202T= NP_742053.1:p.Phe68=
XM_011516186.1:c.202T= XP_011514488.1:p.Phe68=
XM_011516186.3:c.202T= XP_011514488.1:p.Phe68=
XM_017012196.1:c.25T= XP_016867685.1:p.Phe9=
NM_000238.4:c.202T= MANE Select NP_000229.1:p.Phe68=