Canonical Allele Identifier: CA1752430526
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947869T= , CM000669.2:g.150947869T= GRCh38
NC_000007.13:g.150644957T= , CM000669.1:g.150644957T= GRCh37
NC_000007.12:g.150275890T= NCBI36
NG_008916.1:g.35058A= , LRG_288:g.35058A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3535A=
ENST00000262186.10:c.2702A= MANE Select ENSP00000262186.5:p.Gln901=
ENST00000330883.9:c.1682A= ENSP00000328531.4:p.Gln561=
ENST00000262186.9:c.2702A= ENSP00000262186.5:p.Gln901=
ENST00000330883.8:c.1682A= ENSP00000328531.4:p.Gln561=
NM_000238.3:c.2702A= , LRG_288t1:c.2702A= NP_000229.1:p.Gln901=
NM_172057.2:c.1682A= , LRG_288t3:c.1682A= NP_742054.1:p.Gln561=
XM_011516185.1:c.2402A= XP_011514487.1:p.Gln801=
XM_011516186.1:c.2693-178A= XP_011514488.1:n.2693-178A=
XM_011516185.2:c.2402A= XP_011514487.1:p.Gln801=
XM_011516186.3:c.2693-178A= XP_011514488.1:n.2693-178A=
XM_017012195.1:c.2552A= XP_016867684.1:p.Gln851=
XM_017012196.1:c.2525A= XP_016867685.1:p.Gln842=
NM_000238.4:c.2702A= MANE Select NP_000229.1:p.Gln901=
NM_172057.3:c.1682A= NP_742054.1:p.Gln561=