Canonical Allele Identifier: CA1752419686
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959473C= , CM000669.2:g.150959473C= GRCh38
NC_000007.13:g.150656561C= , CM000669.1:g.150656561C= GRCh37
NC_000007.12:g.150287494C= NCBI36
NG_008916.1:g.23454G= , LRG_288:g.23454G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1305+99G=
ENST00000262186.10:c.472+99G= MANE Select ENSP00000262186.5:n.472+99G=
ENST00000262186.9:c.472+99G= ENSP00000262186.5:n.472+99G=
ENST00000430723.4:c.234+160G= ENSP00000387657.4:n.234+160G=
ENST00000532957.5:n.695+99G=
NM_000238.3:c.472+99G= , LRG_288t1:c.472+99G= NP_000229.1:n.472+99G=
NM_172056.2:c.472+99G= , LRG_288t2:c.472+99G= NP_742053.1:n.472+99G=
XM_011516185.1:c.172+99G= XP_011514487.1:n.172+99G=
XM_011516186.1:c.472+99G= XP_011514488.1:n.472+99G=
XM_011516185.2:c.172+99G= XP_011514487.1:n.172+99G=
XM_011516186.3:c.472+99G= XP_011514488.1:n.472+99G=
XM_017012195.1:c.322+99G= XP_016867684.1:n.322+99G=
XM_017012196.1:c.295+99G= XP_016867685.1:n.295+99G=
NM_000238.4:c.472+99G= MANE Select NP_000229.1:n.472+99G=