Canonical Allele Identifier: CA396580812
Gene: COG4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483961G>T , CM000678.2:g.70483961G>T GRCh38
NC_000016.9:g.70517864G>T , CM000678.1:g.70517864G>T GRCh37
NC_000016.8:g.69075365G>T NCBI36
NG_027529.1:g.44594C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*1795C>A ENSP00000461912.2:n.*1795C>A
ENST00000703106.1:c.1764C>A ENSP00000515173.1:n.1764C>A
ENST00000703107.1:c.*1648C>A ENSP00000515174.1:n.*1648C>A
ENST00000703108.1:c.*167C>A ENSP00000515175.1:n.*167C>A
ENST00000703109.1:c.1752C>A ENSP00000515176.1:p.Cys584Ter
ENST00000703110.1:c.*1221C>A ENSP00000515177.1:n.*1221C>A
ENST00000703111.1:n.1726C>A
ENST00000703112.1:n.2492C>A
ENST00000703113.1:c.*1132C>A ENSP00000515178.1:n.*1132C>A
ENST00000703114.1:c.*368C>A ENSP00000515179.1:n.*368C>A
ENST00000703115.1:c.832C>A ENSP00000515180.1:n.832C>A
ENST00000323786.10:c.1719C>A MANE Select ENSP00000315775.5:p.Cys573Ter
ENST00000564415.6:c.*1499C>A ENSP00000456653.2:n.*1499C>A
ENST00000674443.1:c.1644C>A ENSP00000501405.1:p.Cys548Ter
ENST00000323786.9:c.1719C>A ENSP00000315775.5:p.Cys573Ter
ENST00000393612.8:c.1656C>A ENSP00000377236.5:p.Cys552Ter
ENST00000482252.5:c.1866C>A ENSP00000432802.1:n.1866C>A
ENST00000526700.5:n.895C>A
ENST00000530314.5:n.2398C>A
ENST00000564315.1:n.179C>A
ENST00000564415.5:c.*1499C>A ENSP00000456653.1:n.*1499C>A
NM_001195139.1:c.1656C>A NP_001182068.1:p.Cys552Ter
NM_015386.2:c.1719C>A NP_056201.2:p.Cys573Ter
XM_011522981.1:c.1293C>A XP_011521283.1:p.Cys431Ter
XR_933266.1:n.1665C>A
XR_933267.1:n.1665C>A
XM_011522981.3:c.1293C>A XP_011521283.1:p.Cys431Ter
XM_024450224.1:c.738C>A XP_024305992.1:p.Cys246Ter
XR_001751889.1:n.1602C>A
XR_933266.2:n.1665C>A
NM_015386.3:c.1719C>A MANE Select NP_056201.2:p.Cys573Ter
NM_001195139.2:c.1644C>A NP_001182068.2:p.Cys548Ter
NM_001365426.1:c.1293C>A NP_001352355.1:p.Cys431Ter
NR_158212.1:n.1678C>A