Canonical Allele Identifier: CA1752431425
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948488C= , CM000669.2:g.150948488C= GRCh38
NC_000007.13:g.150645576C= , CM000669.1:g.150645576C= GRCh37
NC_000007.12:g.150276509C= NCBI36
NG_008916.1:g.34439G= , LRG_288:g.34439G=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3481G=
ENST00000262186.10:c.2648G= MANE Select ENSP00000262186.5:p.Arg883=
ENST00000330883.9:c.1628G= ENSP00000328531.4:p.Arg543=
ENST00000262186.9:c.2648G= ENSP00000262186.5:p.Arg883=
ENST00000330883.8:c.1628G= ENSP00000328531.4:p.Arg543=
NM_000238.3:c.2648G= , LRG_288t1:c.2648G= NP_000229.1:p.Arg883=
NM_172057.2:c.1628G= , LRG_288t3:c.1628G= NP_742054.1:p.Arg543=
XM_011516185.1:c.2348G= XP_011514487.1:p.Arg783=
XM_011516186.1:c.2648G= XP_011514488.1:p.Arg883=
XM_011516185.2:c.2348G= XP_011514487.1:p.Arg783=
XM_011516186.3:c.2648G= XP_011514488.1:p.Arg883=
XM_017012195.1:c.2498G= XP_016867684.1:p.Arg833=
XM_017012196.1:c.2471G= XP_016867685.1:p.Arg824=
NM_000238.4:c.2648G= MANE Select NP_000229.1:p.Arg883=
NM_172057.3:c.1628G= NP_742054.1:p.Arg543=