Canonical Allele Identifier: CA2634068605
Gene: COG4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483946dup , CM000678.2:g.70483946dup GRCh38
NC_000016.9:g.70517849dup , CM000678.1:g.70517849dup GRCh37
NC_000016.8:g.69075350dup NCBI36
NG_027529.1:g.44610dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*1811dup ENSP00000461912.2:n.*1811dup
ENST00000703106.1:c.1780dup ENSP00000515173.1:n.1780dup
ENST00000703107.1:c.*1664dup ENSP00000515174.1:n.*1664dup
ENST00000703108.1:c.*183dup ENSP00000515175.1:n.*183dup
ENST00000703109.1:c.1768dup ENSP00000515176.1:p.Gln590ProfsTer13
ENST00000703110.1:c.*1237dup ENSP00000515177.1:n.*1237dup
ENST00000703111.1:n.1742dup
ENST00000703112.1:n.2508dup
ENST00000703113.1:c.*1148dup ENSP00000515178.1:n.*1148dup
ENST00000703114.1:c.*384dup ENSP00000515179.1:n.*384dup
ENST00000703115.1:c.848dup ENSP00000515180.1:n.848dup
ENST00000323786.10:c.1735dup MANE Select ENSP00000315775.5:p.Gln579ProfsTer13
ENST00000564415.6:c.*1515dup ENSP00000456653.2:n.*1515dup
ENST00000674443.1:c.1660dup ENSP00000501405.1:p.Gln554ProfsTer13
ENST00000323786.9:c.1735dup ENSP00000315775.5:p.Gln579ProfsTer13
ENST00000393612.8:c.1672dup ENSP00000377236.5:p.Gln558ProfsTer13
ENST00000482252.5:c.1882dup ENSP00000432802.1:n.1882dup
ENST00000526700.5:n.911dup
ENST00000530314.5:n.2414dup
ENST00000564315.1:n.195dup
ENST00000564415.5:c.*1515dup ENSP00000456653.1:n.*1515dup
NM_001195139.1:c.1672dup NP_001182068.1:p.Gln558ProfsTer13
NM_015386.2:c.1735dup NP_056201.2:p.Gln579ProfsTer13
XM_011522981.1:c.1309dup XP_011521283.1:p.Gln437ProfsTer13
XR_933266.1:n.1681dup
XR_933267.1:n.1681dup
XM_011522981.3:c.1309dup XP_011521283.1:p.Gln437ProfsTer13
XM_024450224.1:c.754dup XP_024305992.1:p.Gln252ProfsTer13
XR_001751889.1:n.1618dup
XR_933266.2:n.1681dup
NM_015386.3:c.1735dup MANE Select NP_056201.2:p.Gln579ProfsTer13
NM_001195139.2:c.1660dup NP_001182068.2:p.Gln554ProfsTer13
NM_001365426.1:c.1309dup NP_001352355.1:p.Gln437ProfsTer13
NR_158212.1:n.1694dup