Canonical Allele Identifier: CA2634068591
Gene: COG4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483927dup , CM000678.2:g.70483927dup GRCh38
NC_000016.9:g.70517830dup , CM000678.1:g.70517830dup GRCh37
NC_000016.8:g.69075331dup NCBI36
NG_027529.1:g.44628dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*1829dup ENSP00000461912.2:n.*1829dup
ENST00000703106.1:c.1798dup ENSP00000515173.1:n.1798dup
ENST00000703107.1:c.*1682dup ENSP00000515174.1:n.*1682dup
ENST00000703108.1:c.*201dup ENSP00000515175.1:n.*201dup
ENST00000703109.1:c.1786dup ENSP00000515176.1:p.Gln596ProfsTer7
ENST00000703110.1:c.*1255dup ENSP00000515177.1:n.*1255dup
ENST00000703111.1:n.1760dup
ENST00000703112.1:n.2526dup
ENST00000703113.1:c.*1166dup ENSP00000515178.1:n.*1166dup
ENST00000703114.1:c.*402dup ENSP00000515179.1:n.*402dup
ENST00000703115.1:c.866dup ENSP00000515180.1:n.866dup
ENST00000323786.10:c.1753dup MANE Select ENSP00000315775.5:p.Gln585ProfsTer7
ENST00000564415.6:c.*1533dup ENSP00000456653.2:n.*1533dup
ENST00000674443.1:c.1678dup ENSP00000501405.1:p.Gln560ProfsTer7
ENST00000323786.9:c.1753dup ENSP00000315775.5:p.Gln585ProfsTer7
ENST00000393612.8:c.1690dup ENSP00000377236.5:p.Gln564ProfsTer7
ENST00000482252.5:c.1900dup ENSP00000432802.1:n.1900dup
ENST00000526700.5:n.929dup
ENST00000530314.5:n.2432dup
ENST00000564315.1:n.213dup
ENST00000564415.5:c.*1533dup ENSP00000456653.1:n.*1533dup
NM_001195139.1:c.1690dup NP_001182068.1:p.Gln564ProfsTer7
NM_015386.2:c.1753dup NP_056201.2:p.Gln585ProfsTer7
XM_011522981.1:c.1327dup XP_011521283.1:p.Gln443ProfsTer7
XR_933266.1:n.1699dup
XR_933267.1:n.1699dup
XM_011522981.3:c.1327dup XP_011521283.1:p.Gln443ProfsTer7
XM_024450224.1:c.772dup XP_024305992.1:p.Gln258ProfsTer7
XR_001751889.1:n.1636dup
XR_933266.2:n.1699dup
NM_015386.3:c.1753dup MANE Select NP_056201.2:p.Gln585ProfsTer7
NM_001195139.2:c.1678dup NP_001182068.2:p.Gln560ProfsTer7
NM_001365426.1:c.1327dup NP_001352355.1:p.Gln443ProfsTer7
NR_158212.1:n.1712dup