Canonical Allele Identifier: CA1752461868
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974732T= , CM000669.2:g.150974732T= GRCh38
NC_000007.13:g.150671820T= , CM000669.1:g.150671820T= GRCh37
NC_000007.12:g.150302753T= NCBI36
NG_008916.1:g.8195A= , LRG_288:g.8195A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.286A= MANE Select ENSP00000262186.5:p.Ile96=
ENST00000262186.9:c.286A= ENSP00000262186.5:p.Ile96=
ENST00000430723.4:c.109A= ENSP00000387657.4:p.Ile37=
ENST00000532957.5:n.509A=
NM_000238.3:c.286A= , LRG_288t1:c.286A= NP_000229.1:p.Ile96=
NM_172056.2:c.286A= , LRG_288t2:c.286A= NP_742053.1:p.Ile96=
XM_011516186.1:c.286A= XP_011514488.1:p.Ile96=
XM_011516186.3:c.286A= XP_011514488.1:p.Ile96=
XM_017012196.1:c.109A= XP_016867685.1:p.Ile37=
NM_000238.4:c.286A= MANE Select NP_000229.1:p.Ile96=