Canonical Allele Identifier: CA396580599
Gene: COG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1506269
ClinVar RCV Id: RCV002006602
dbSNP Id: rs2151739637

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483864C>G , CM000678.2:g.70483864C>G GRCh38
NC_000016.9:g.70517767C>G , CM000678.1:g.70517767C>G GRCh37
NC_000016.8:g.69075268C>G NCBI36
NG_027529.1:g.44691G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*1892G>C ENSP00000461912.2:n.*1892G>C
ENST00000703106.1:c.1861G>C ENSP00000515173.1:n.1861G>C
ENST00000703107.1:c.*1745G>C ENSP00000515174.1:n.*1745G>C
ENST00000703108.1:c.*264G>C ENSP00000515175.1:n.*264G>C
ENST00000703109.1:c.1849G>C ENSP00000515176.1:p.Asp617His
ENST00000703110.1:c.*1318G>C ENSP00000515177.1:n.*1318G>C
ENST00000703111.1:n.1823G>C
ENST00000703112.1:n.2589G>C
ENST00000703113.1:c.*1229G>C ENSP00000515178.1:n.*1229G>C
ENST00000703114.1:c.*465G>C ENSP00000515179.1:n.*465G>C
ENST00000703115.1:c.929G>C ENSP00000515180.1:n.929G>C
ENST00000323786.10:c.1816G>C MANE Select ENSP00000315775.5:p.Asp606His
ENST00000564415.6:c.*1596G>C ENSP00000456653.2:n.*1596G>C
ENST00000674443.1:c.1741G>C ENSP00000501405.1:p.Asp581His
ENST00000323786.9:c.1816G>C ENSP00000315775.5:p.Asp606His
ENST00000393612.8:c.1753G>C ENSP00000377236.5:p.Asp585His
ENST00000482252.5:c.1963G>C ENSP00000432802.1:n.1963G>C
ENST00000526700.5:n.992G>C
ENST00000530314.5:n.2495G>C
ENST00000564315.1:n.276G>C
ENST00000564415.5:c.*1596G>C ENSP00000456653.1:n.*1596G>C
NM_001195139.1:c.1753G>C NP_001182068.1:p.Asp585His
NM_015386.2:c.1816G>C NP_056201.2:p.Asp606His
XM_011522981.1:c.1390G>C XP_011521283.1:p.Asp464His
XR_933266.1:n.1762G>C
XR_933267.1:n.1762G>C
XM_011522981.3:c.1390G>C XP_011521283.1:p.Asp464His
XM_024450224.1:c.835G>C XP_024305992.1:p.Asp279His
XR_001751889.1:n.1699G>C
XR_933266.2:n.1762G>C
NM_015386.3:c.1816G>C MANE Select NP_056201.2:p.Asp606His
NM_001195139.2:c.1741G>C NP_001182068.2:p.Asp581His
NM_001365426.1:c.1390G>C NP_001352355.1:p.Asp464His
NR_158212.1:n.1775G>C