Canonical Allele Identifier: CA1752418002
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958165C= , CM000669.2:g.150958165C= GRCh38
NC_000007.13:g.150655253C= , CM000669.1:g.150655253C= GRCh37
NC_000007.12:g.150286186C= NCBI36
NG_008916.1:g.24762G= , LRG_288:g.24762G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1643G=
ENST00000262186.10:c.810G= MANE Select ENSP00000262186.5:p.Thr270=
ENST00000262186.9:c.810G= ENSP00000262186.5:p.Thr270=
ENST00000430723.4:c.462G= ENSP00000387657.4:p.Thr154=
ENST00000532957.5:n.1033G=
NM_000238.3:c.810G= , LRG_288t1:c.810G= NP_000229.1:p.Thr270=
NM_172056.2:c.810G= , LRG_288t2:c.810G= NP_742053.1:p.Thr270=
XM_011516185.1:c.510G= XP_011514487.1:p.Thr170=
XM_011516186.1:c.810G= XP_011514488.1:p.Thr270=
XM_011516185.2:c.510G= XP_011514487.1:p.Thr170=
XM_011516186.3:c.810G= XP_011514488.1:p.Thr270=
XM_017012195.1:c.660G= XP_016867684.1:p.Thr220=
XM_017012196.1:c.633G= XP_016867685.1:p.Thr211=
NM_000238.4:c.810G= MANE Select NP_000229.1:p.Thr270=