Canonical Allele Identifier: CA1752418700
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958434G= , CM000669.2:g.150958434G= GRCh38
NC_000007.13:g.150655522G= , CM000669.1:g.150655522G= GRCh37
NC_000007.12:g.150286455G= NCBI36
NG_008916.1:g.24493C= , LRG_288:g.24493C=

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1374C=
ENST00000262186.10:c.541C= MANE Select ENSP00000262186.5:p.Arg181=
ENST00000262186.9:c.541C= ENSP00000262186.5:p.Arg181=
ENST00000430723.4:c.235-42C= ENSP00000387657.4:n.235-42C=
ENST00000532957.5:n.764C=
NM_000238.3:c.541C= , LRG_288t1:c.541C= NP_000229.1:p.Arg181=
NM_172056.2:c.541C= , LRG_288t2:c.541C= NP_742053.1:p.Arg181=
XM_011516185.1:c.241C= XP_011514487.1:p.Arg81=
XM_011516186.1:c.541C= XP_011514488.1:p.Arg181=
XM_011516185.2:c.241C= XP_011514487.1:p.Arg81=
XM_011516186.3:c.541C= XP_011514488.1:p.Arg181=
XM_017012195.1:c.391C= XP_016867684.1:p.Arg131=
XM_017012196.1:c.364C= XP_016867685.1:p.Arg122=
NM_000238.4:c.541C= MANE Select NP_000229.1:p.Arg181=