Canonical Allele Identifier: CA396572437
Gene: COG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 449730
dbSNP Id: rs1555575860

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70496367C>T , CM000678.2:g.70496367C>T GRCh38
NC_000016.9:g.70530270C>T , CM000678.1:g.70530270C>T GRCh37
NC_000016.8:g.69087771C>T NCBI36
NG_027529.1:g.32188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*1622G>A ENSP00000461912.2:n.*1622G>A
ENST00000703106.1:c.1495G>A ENSP00000515173.1:p.Gly499Arg
ENST00000703107.1:c.*1475G>A ENSP00000515174.1:n.*1475G>A
ENST00000703108.1:c.1482G>A ENSP00000515175.1:p.Ala494=
ENST00000703109.1:c.1453G>A ENSP00000515176.1:p.Gly485Arg
ENST00000703110.1:c.*1111G>A ENSP00000515177.1:n.*1111G>A
ENST00000703111.1:n.1553G>A
ENST00000703112.1:n.2319G>A
ENST00000703113.1:c.*959G>A ENSP00000515178.1:n.*959G>A
ENST00000703114.1:c.*195G>A ENSP00000515179.1:n.*195G>A
ENST00000703115.1:c.790-6004G>A ENSP00000515180.1:n.790-6004G>A
ENST00000323786.10:c.1546G>A MANE Select ENSP00000315775.5:p.Gly516Arg
ENST00000564415.6:c.*1326G>A ENSP00000456653.2:n.*1326G>A
ENST00000674443.1:c.1534G>A ENSP00000501405.1:p.Gly512Arg
ENST00000323786.9:c.1546G>A ENSP00000315775.5:p.Gly516Arg
ENST00000393612.8:c.1546G>A ENSP00000377236.5:p.Gly516Arg
ENST00000482252.5:c.1693G>A ENSP00000432802.1:n.1693G>A
ENST00000526700.5:n.785G>A
ENST00000530314.5:n.2225G>A
ENST00000564315.1:n.6G>A
ENST00000564415.5:c.*1326G>A ENSP00000456653.1:n.*1326G>A
NM_001195139.1:c.1546G>A NP_001182068.1:p.Gly516Arg
NM_015386.2:c.1546G>A NP_056201.2:p.Gly516Arg
XM_011522981.1:c.1120G>A XP_011521283.1:p.Gly374Arg
XR_933266.1:n.1492G>A
XR_933267.1:n.1492G>A
XM_011522981.3:c.1120G>A XP_011521283.1:p.Gly374Arg
XM_024450224.1:c.628G>A XP_024305992.1:p.Gly210Arg
XR_001751889.1:n.1492G>A
XR_933266.2:n.1492G>A
NM_015386.3:c.1546G>A MANE Select NP_056201.2:p.Gly516Arg
NM_001195139.2:c.1534G>A NP_001182068.2:p.Gly512Arg
NM_001365426.1:c.1120G>A NP_001352355.1:p.Gly374Arg
NR_158212.1:n.1505G>A