Canonical Allele Identifier: CA396578271
Gene: COG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2440186
ClinVar RCV Id: RCV003145086
dbSNP Id: rs1056526236

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70481432G>T , CM000678.2:g.70481432G>T GRCh38
NC_000016.9:g.70515335G>T , CM000678.1:g.70515335G>T GRCh37
NC_000016.8:g.69072836G>T NCBI36
NG_027529.1:g.47123C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*2238C>A ENSP00000461912.2:n.*2238C>A
ENST00000703106.1:c.2207C>A ENSP00000515173.1:n.2207C>A
ENST00000703107.1:c.*2091C>A ENSP00000515174.1:n.*2091C>A
ENST00000703108.1:c.*610C>A ENSP00000515175.1:n.*610C>A
ENST00000703109.1:c.2195C>A ENSP00000515176.1:p.Thr732Lys
ENST00000703110.1:c.*1664C>A ENSP00000515177.1:n.*1664C>A
ENST00000703111.1:n.2445C>A
ENST00000703112.1:n.3106C>A
ENST00000703113.1:c.*1575C>A ENSP00000515178.1:n.*1575C>A
ENST00000703114.1:c.*811C>A ENSP00000515179.1:n.*811C>A
ENST00000703115.1:c.1275C>A ENSP00000515180.1:n.1275C>A
ENST00000323786.10:c.2162C>A MANE Select ENSP00000315775.5:p.Thr721Lys
ENST00000564415.6:c.*1942C>A ENSP00000456653.2:n.*1942C>A
ENST00000674443.1:c.2087C>A ENSP00000501405.1:p.Thr696Lys
ENST00000323786.9:c.2162C>A ENSP00000315775.5:p.Thr721Lys
ENST00000393612.8:c.2099C>A ENSP00000377236.5:p.Thr700Lys
ENST00000482252.5:c.2309C>A ENSP00000432802.1:n.2309C>A
ENST00000526700.5:n.1338C>A
ENST00000530314.5:n.2841C>A
ENST00000564415.5:c.*1942C>A ENSP00000456653.1:n.*1942C>A
ENST00000565715.1:c.224C>A ENSP00000455693.1:p.Thr75Lys
NM_001195139.1:c.2099C>A NP_001182068.1:p.Thr700Lys
NM_015386.2:c.2162C>A NP_056201.2:p.Thr721Lys
XM_011522981.1:c.1736C>A XP_011521283.1:p.Thr579Lys
XM_011522981.3:c.1736C>A XP_011521283.1:p.Thr579Lys
XM_024450224.1:c.1181C>A XP_024305992.1:p.Thr394Lys
XR_933266.2:n.2108C>A
NM_015386.3:c.2162C>A MANE Select NP_056201.2:p.Thr721Lys
NM_001195139.2:c.2087C>A NP_001182068.2:p.Thr696Lys
NM_001365426.1:c.1736C>A NP_001352355.1:p.Thr579Lys
NR_158212.1:n.2121C>A