Canonical Allele Identifier: CA1752419915
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959622G= , CM000669.2:g.150959622G= GRCh38
NC_000007.13:g.150656710G= , CM000669.1:g.150656710G= GRCh37
NC_000007.12:g.150287643G= NCBI36
NG_008916.1:g.23305C= , LRG_288:g.23305C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1255C=
ENST00000262186.10:c.422C= MANE Select ENSP00000262186.5:p.Pro141=
ENST00000262186.9:c.422C= ENSP00000262186.5:p.Pro141=
ENST00000430723.4:c.234+11C= ENSP00000387657.4:n.234+11C=
ENST00000532957.5:n.645C=
NM_000238.3:c.422C= , LRG_288t1:c.422C= NP_000229.1:p.Pro141=
NM_172056.2:c.422C= , LRG_288t2:c.422C= NP_742053.1:p.Pro141=
XM_011516185.1:c.122C= XP_011514487.1:p.Pro41=
XM_011516186.1:c.422C= XP_011514488.1:p.Pro141=
XM_011516185.2:c.122C= XP_011514487.1:p.Pro41=
XM_011516186.3:c.422C= XP_011514488.1:p.Pro141=
XM_017012195.1:c.272C= XP_016867684.1:p.Pro91=
XM_017012196.1:c.245C= XP_016867685.1:p.Pro82=
NM_000238.4:c.422C= MANE Select NP_000229.1:p.Pro141=