Canonical Allele Identifier: CA1752419957
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959639C= , CM000669.2:g.150959639C= GRCh38
NC_000007.13:g.150656727C= , CM000669.1:g.150656727C= GRCh37
NC_000007.12:g.150287660C= NCBI36
NG_008916.1:g.23288G= , LRG_288:g.23288G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1238G=
ENST00000262186.10:c.405G= MANE Select ENSP00000262186.5:p.Lys135=
ENST00000262186.9:c.405G= ENSP00000262186.5:p.Lys135=
ENST00000430723.4:c.228G= ENSP00000387657.4:p.Lys76=
ENST00000532957.5:n.628G=
NM_000238.3:c.405G= , LRG_288t1:c.405G= NP_000229.1:p.Lys135=
NM_172056.2:c.405G= , LRG_288t2:c.405G= NP_742053.1:p.Lys135=
XM_011516185.1:c.105G= XP_011514487.1:p.Lys35=
XM_011516186.1:c.405G= XP_011514488.1:p.Lys135=
XM_011516185.2:c.105G= XP_011514487.1:p.Lys35=
XM_011516186.3:c.405G= XP_011514488.1:p.Lys135=
XM_017012195.1:c.255G= XP_016867684.1:p.Lys85=
XM_017012196.1:c.228G= XP_016867685.1:p.Lys76=
NM_000238.4:c.405G= MANE Select NP_000229.1:p.Lys135=