Canonical Allele Identifier: CA1752453057
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150970122C= , CM000669.2:g.150970122C= GRCh38
NC_000007.13:g.150667210C= , CM000669.1:g.150667210C= GRCh37
NC_000007.12:g.150298143C= NCBI36
NG_008916.1:g.12805G= , LRG_288:g.12805G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000262186.10:c.307+4589G= MANE Select ENSP00000262186.5:n.307+4589G=
ENST00000262186.9:c.307+4589G= ENSP00000262186.5:n.307+4589G=
ENST00000430723.4:c.130+4589G= ENSP00000387657.4:n.130+4589G=
ENST00000532957.5:n.530+4589G=
NM_000238.3:c.307+4589G= , LRG_288t1:c.307+4589G= NP_000229.1:n.307+4589G=
NM_172056.2:c.307+4589G= , LRG_288t2:c.307+4589G= NP_742053.1:n.307+4589G=
XM_011516185.1:c.7+4248G= XP_011514487.1:n.7+4248G=
XM_011516186.1:c.307+4589G= XP_011514488.1:n.307+4589G=
XM_011516185.2:c.7+4248G= XP_011514487.1:n.7+4248G=
XM_011516186.3:c.307+4589G= XP_011514488.1:n.307+4589G=
XM_017012196.1:c.130+4589G= XP_016867685.1:n.130+4589G=
NM_000238.4:c.307+4589G= MANE Select NP_000229.1:n.307+4589G=