Canonical Allele Identifier: CA396580773
Gene: COG4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483944T>G , CM000678.2:g.70483944T>G GRCh38
NC_000016.9:g.70517847T>G , CM000678.1:g.70517847T>G GRCh37
NC_000016.8:g.69075348T>G NCBI36
NG_027529.1:g.44611A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*1812A>C ENSP00000461912.2:n.*1812A>C
ENST00000703106.1:c.1781A>C ENSP00000515173.1:n.1781A>C
ENST00000703107.1:c.*1665A>C ENSP00000515174.1:n.*1665A>C
ENST00000703108.1:c.*184A>C ENSP00000515175.1:n.*184A>C
ENST00000703109.1:c.1769A>C ENSP00000515176.1:p.Gln590Pro
ENST00000703110.1:c.*1238A>C ENSP00000515177.1:n.*1238A>C
ENST00000703111.1:n.1743A>C
ENST00000703112.1:n.2509A>C
ENST00000703113.1:c.*1149A>C ENSP00000515178.1:n.*1149A>C
ENST00000703114.1:c.*385A>C ENSP00000515179.1:n.*385A>C
ENST00000703115.1:c.849A>C ENSP00000515180.1:n.849A>C
ENST00000323786.10:c.1736A>C MANE Select ENSP00000315775.5:p.Gln579Pro
ENST00000564415.6:c.*1516A>C ENSP00000456653.2:n.*1516A>C
ENST00000674443.1:c.1661A>C ENSP00000501405.1:p.Gln554Pro
ENST00000323786.9:c.1736A>C ENSP00000315775.5:p.Gln579Pro
ENST00000393612.8:c.1673A>C ENSP00000377236.5:p.Gln558Pro
ENST00000482252.5:c.1883A>C ENSP00000432802.1:n.1883A>C
ENST00000526700.5:n.912A>C
ENST00000530314.5:n.2415A>C
ENST00000564315.1:n.196A>C
ENST00000564415.5:c.*1516A>C ENSP00000456653.1:n.*1516A>C
NM_001195139.1:c.1673A>C NP_001182068.1:p.Gln558Pro
NM_015386.2:c.1736A>C NP_056201.2:p.Gln579Pro
XM_011522981.1:c.1310A>C XP_011521283.1:p.Gln437Pro
XR_933266.1:n.1682A>C
XR_933267.1:n.1682A>C
XM_011522981.3:c.1310A>C XP_011521283.1:p.Gln437Pro
XM_024450224.1:c.755A>C XP_024305992.1:p.Gln252Pro
XR_001751889.1:n.1619A>C
XR_933266.2:n.1682A>C
NM_015386.3:c.1736A>C MANE Select NP_056201.2:p.Gln579Pro
NM_001195139.2:c.1661A>C NP_001182068.2:p.Gln554Pro
NM_001365426.1:c.1310A>C NP_001352355.1:p.Gln437Pro
NR_158212.1:n.1695A>C