Canonical Allele Identifier: CA1752419861
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959598C= , CM000669.2:g.150959598C= GRCh38
NC_000007.13:g.150656686C= , CM000669.1:g.150656686C= GRCh37
NC_000007.12:g.150287619C= NCBI36
NG_008916.1:g.23329G= , LRG_288:g.23329G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1279G=
ENST00000262186.10:c.446G= MANE Select ENSP00000262186.5:p.Gly149=
ENST00000262186.9:c.446G= ENSP00000262186.5:p.Gly149=
ENST00000430723.4:c.234+35G= ENSP00000387657.4:n.234+35G=
ENST00000532957.5:n.669G=
NM_000238.3:c.446G= , LRG_288t1:c.446G= NP_000229.1:p.Gly149=
NM_172056.2:c.446G= , LRG_288t2:c.446G= NP_742053.1:p.Gly149=
XM_011516185.1:c.146G= XP_011514487.1:p.Gly49=
XM_011516186.1:c.446G= XP_011514488.1:p.Gly149=
XM_011516185.2:c.146G= XP_011514487.1:p.Gly49=
XM_011516186.3:c.446G= XP_011514488.1:p.Gly149=
XM_017012195.1:c.296G= XP_016867684.1:p.Gly99=
XM_017012196.1:c.269G= XP_016867685.1:p.Gly90=
NM_000238.4:c.446G= MANE Select NP_000229.1:p.Gly149=