Canonical Allele Identifier: CA1752420075
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150959701C= , CM000669.2:g.150959701C= GRCh38
NC_000007.13:g.150656789C= , CM000669.1:g.150656789C= GRCh37
NC_000007.12:g.150287722C= NCBI36
NG_008916.1:g.23226G= , LRG_288:g.23226G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1176G=
ENST00000262186.10:c.343G= MANE Select ENSP00000262186.5:p.Val115=
ENST00000262186.9:c.343G= ENSP00000262186.5:p.Val115=
ENST00000430723.4:c.166G= ENSP00000387657.4:p.Val56=
ENST00000532957.5:n.566G=
NM_000238.3:c.343G= , LRG_288t1:c.343G= NP_000229.1:p.Val115=
NM_172056.2:c.343G= , LRG_288t2:c.343G= NP_742053.1:p.Val115=
XM_011516185.1:c.43G= XP_011514487.1:p.Val15=
XM_011516186.1:c.343G= XP_011514488.1:p.Val115=
XM_011516185.2:c.43G= XP_011514487.1:p.Val15=
XM_011516186.3:c.343G= XP_011514488.1:p.Val115=
XM_017012195.1:c.193G= XP_016867684.1:p.Val65=
XM_017012196.1:c.166G= XP_016867685.1:p.Val56=
NM_000238.4:c.343G= MANE Select NP_000229.1:p.Val115=