Canonical Allele Identifier: CA1752461890
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150974738C= , CM000669.2:g.150974738C= GRCh38
NC_000007.13:g.150671826C= , CM000669.1:g.150671826C= GRCh37
NC_000007.12:g.150302759C= NCBI36
NG_008916.1:g.8189G= , LRG_288:g.8189G=

Transcript Alleles

HGVS Amino-acid change
ENST00000262186.10:c.280G= MANE Select ENSP00000262186.5:p.Val94=
ENST00000262186.9:c.280G= ENSP00000262186.5:p.Val94=
ENST00000430723.4:c.103G= ENSP00000387657.4:p.Val35=
ENST00000532957.5:n.503G=
NM_000238.3:c.280G= , LRG_288t1:c.280G= NP_000229.1:p.Val94=
NM_172056.2:c.280G= , LRG_288t2:c.280G= NP_742053.1:p.Val94=
XM_011516186.1:c.280G= XP_011514488.1:p.Val94=
XM_011516186.3:c.280G= XP_011514488.1:p.Val94=
XM_017012196.1:c.103G= XP_016867685.1:p.Val35=
NM_000238.4:c.280G= MANE Select NP_000229.1:p.Val94=