Canonical Allele Identifier: CA1752416910
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957460G= , CM000669.2:g.150957460G= GRCh38
NC_000007.13:g.150654548G= , CM000669.1:g.150654548G= GRCh37
NC_000007.12:g.150285481G= NCBI36
NG_008916.1:g.25467C= , LRG_288:g.25467C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1792C=
ENST00000262186.10:c.959C= MANE Select ENSP00000262186.5:p.Ser320=
ENST00000262186.9:c.959C= ENSP00000262186.5:p.Ser320=
ENST00000430723.4:c.611C= ENSP00000387657.4:p.Ser204=
ENST00000532957.5:n.1182C=
NM_000238.3:c.959C= , LRG_288t1:c.959C= NP_000229.1:p.Ser320=
NM_172056.2:c.959C= , LRG_288t2:c.959C= NP_742053.1:p.Ser320=
XM_011516185.1:c.659C= XP_011514487.1:p.Ser220=
XM_011516186.1:c.959C= XP_011514488.1:p.Ser320=
XM_011516185.2:c.659C= XP_011514487.1:p.Ser220=
XM_011516186.3:c.959C= XP_011514488.1:p.Ser320=
XM_017012195.1:c.809C= XP_016867684.1:p.Ser270=
XM_017012196.1:c.782C= XP_016867685.1:p.Ser261=
NM_000238.4:c.959C= MANE Select NP_000229.1:p.Ser320=