Canonical Allele Identifier: CA1752416593
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150957291C= , CM000669.2:g.150957291C= GRCh38
NC_000007.13:g.150654379C= , CM000669.1:g.150654379C= GRCh37
NC_000007.12:g.150285312C= NCBI36
NG_008916.1:g.25636G= , LRG_288:g.25636G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.1961G=
ENST00000262186.10:c.1128G= MANE Select ENSP00000262186.5:p.Gln376=
ENST00000262186.9:c.1128G= ENSP00000262186.5:p.Gln376=
ENST00000430723.4:c.780G= ENSP00000387657.4:p.Gln260=
ENST00000532957.5:n.1351G=
NM_000238.3:c.1128G= , LRG_288t1:c.1128G= NP_000229.1:p.Gln376=
NM_172056.2:c.1128G= , LRG_288t2:c.1128G= NP_742053.1:p.Gln376=
XM_011516185.1:c.828G= XP_011514487.1:p.Gln276=
XM_011516186.1:c.1128G= XP_011514488.1:p.Gln376=
XM_011516185.2:c.828G= XP_011514487.1:p.Gln276=
XM_011516186.3:c.1128G= XP_011514488.1:p.Gln376=
XM_017012195.1:c.978G= XP_016867684.1:p.Gln326=
XM_017012196.1:c.951G= XP_016867685.1:p.Gln317=
NM_000238.4:c.1128G= MANE Select NP_000229.1:p.Gln376=