Canonical Allele Identifier: CA1752446410
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150977870A= , CM000669.2:g.150977870A= GRCh38
NC_000007.13:g.150674958A= , CM000669.1:g.150674958A= GRCh37
NC_000007.12:g.150305891A= NCBI36
NG_008916.1:g.5057T= , LRG_288:g.5057T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.44T= MANE Select ENSP00000262186.5:p.Leu15=
ENST00000262186.9:c.44T= ENSP00000262186.5:p.Leu15=
ENST00000430723.4:c.-134T= ENSP00000387657.4:n.-134T=
ENST00000532957.5:n.267T=
NM_000238.3:c.44T= , LRG_288t1:c.44T= NP_000229.1:p.Leu15=
NM_172056.2:c.44T= , LRG_288t2:c.44T= NP_742053.1:p.Leu15=
XM_011516186.1:c.44T= XP_011514488.1:p.Leu15=
XM_011516186.3:c.44T= XP_011514488.1:p.Leu15=
NM_000238.4:c.44T= MANE Select NP_000229.1:p.Leu15=