Canonical Allele Identifier: CA396580765
Gene: COG4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483941C>G , CM000678.2:g.70483941C>G GRCh38
NC_000016.9:g.70517844C>G , CM000678.1:g.70517844C>G GRCh37
NC_000016.8:g.69075345C>G NCBI36
NG_027529.1:g.44614G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*1815G>C ENSP00000461912.2:n.*1815G>C
ENST00000703106.1:c.1784G>C ENSP00000515173.1:n.1784G>C
ENST00000703107.1:c.*1668G>C ENSP00000515174.1:n.*1668G>C
ENST00000703108.1:c.*187G>C ENSP00000515175.1:n.*187G>C
ENST00000703109.1:c.1772G>C ENSP00000515176.1:p.Gly591Ala
ENST00000703110.1:c.*1241G>C ENSP00000515177.1:n.*1241G>C
ENST00000703111.1:n.1746G>C
ENST00000703112.1:n.2512G>C
ENST00000703113.1:c.*1152G>C ENSP00000515178.1:n.*1152G>C
ENST00000703114.1:c.*388G>C ENSP00000515179.1:n.*388G>C
ENST00000703115.1:c.852G>C ENSP00000515180.1:n.852G>C
ENST00000323786.10:c.1739G>C MANE Select ENSP00000315775.5:p.Gly580Ala
ENST00000564415.6:c.*1519G>C ENSP00000456653.2:n.*1519G>C
ENST00000674443.1:c.1664G>C ENSP00000501405.1:p.Gly555Ala
ENST00000323786.9:c.1739G>C ENSP00000315775.5:p.Gly580Ala
ENST00000393612.8:c.1676G>C ENSP00000377236.5:p.Gly559Ala
ENST00000482252.5:c.1886G>C ENSP00000432802.1:n.1886G>C
ENST00000526700.5:n.915G>C
ENST00000530314.5:n.2418G>C
ENST00000564315.1:n.199G>C
ENST00000564415.5:c.*1519G>C ENSP00000456653.1:n.*1519G>C
NM_001195139.1:c.1676G>C NP_001182068.1:p.Gly559Ala
NM_015386.2:c.1739G>C NP_056201.2:p.Gly580Ala
XM_011522981.1:c.1313G>C XP_011521283.1:p.Gly438Ala
XR_933266.1:n.1685G>C
XR_933267.1:n.1685G>C
XM_011522981.3:c.1313G>C XP_011521283.1:p.Gly438Ala
XM_024450224.1:c.758G>C XP_024305992.1:p.Gly253Ala
XR_001751889.1:n.1622G>C
XR_933266.2:n.1685G>C
NM_015386.3:c.1739G>C MANE Select NP_056201.2:p.Gly580Ala
NM_001195139.2:c.1664G>C NP_001182068.2:p.Gly555Ala
NM_001365426.1:c.1313G>C NP_001352355.1:p.Gly438Ala
NR_158212.1:n.1698G>C