Canonical Allele Identifier: CA1752431448
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948497C= , CM000669.2:g.150948497C= GRCh38
NC_000007.13:g.150645585C= , CM000669.1:g.150645585C= GRCh37
NC_000007.12:g.150276518C= NCBI36
NG_008916.1:g.34430G= , LRG_288:g.34430G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3472G=
ENST00000262186.10:c.2639G= MANE Select ENSP00000262186.5:p.Gly880=
ENST00000330883.9:c.1619G= ENSP00000328531.4:p.Gly540=
ENST00000262186.9:c.2639G= ENSP00000262186.5:p.Gly880=
ENST00000330883.8:c.1619G= ENSP00000328531.4:p.Gly540=
NM_000238.3:c.2639G= , LRG_288t1:c.2639G= NP_000229.1:p.Gly880=
NM_172057.2:c.1619G= , LRG_288t3:c.1619G= NP_742054.1:p.Gly540=
XM_011516185.1:c.2339G= XP_011514487.1:p.Gly780=
XM_011516186.1:c.2639G= XP_011514488.1:p.Gly880=
XM_011516185.2:c.2339G= XP_011514487.1:p.Gly780=
XM_011516186.3:c.2639G= XP_011514488.1:p.Gly880=
XM_017012195.1:c.2489G= XP_016867684.1:p.Gly830=
XM_017012196.1:c.2462G= XP_016867685.1:p.Gly821=
NM_000238.4:c.2639G= MANE Select NP_000229.1:p.Gly880=
NM_172057.3:c.1619G= NP_742054.1:p.Gly540=