Canonical Allele Identifier: CA2230785031
Gene: COG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70481456C= , CM000678.2:g.70481456C= GRCh38
NC_000016.9:g.70515359C= , CM000678.1:g.70515359C= GRCh37
NC_000016.8:g.69072860C= NCBI36
NG_027529.1:g.47099G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*2214G= ENSP00000461912.2:n.*2214G=
ENST00000703106.1:c.2183G= ENSP00000515173.1:n.2183G=
ENST00000703107.1:c.*2067G= ENSP00000515174.1:n.*2067G=
ENST00000703108.1:c.*586G= ENSP00000515175.1:n.*586G=
ENST00000703109.1:c.2171G= ENSP00000515176.1:p.Arg724=
ENST00000703110.1:c.*1640G= ENSP00000515177.1:n.*1640G=
ENST00000703111.1:n.2421G=
ENST00000703112.1:n.3082G=
ENST00000703113.1:c.*1551G= ENSP00000515178.1:n.*1551G=
ENST00000703114.1:c.*787G= ENSP00000515179.1:n.*787G=
ENST00000703115.1:c.1251G= ENSP00000515180.1:n.1251G=
ENST00000323786.10:c.2138G= MANE Select ENSP00000315775.5:p.Arg713=
ENST00000564415.6:c.*1918G= ENSP00000456653.2:n.*1918G=
ENST00000674443.1:c.2063G= ENSP00000501405.1:p.Arg688=
ENST00000323786.9:c.2138G= ENSP00000315775.5:p.Arg713=
ENST00000393612.8:c.2075G= ENSP00000377236.5:p.Arg692=
ENST00000482252.5:c.2285G= ENSP00000432802.1:n.2285G=
ENST00000526700.5:n.1314G=
ENST00000530314.5:n.2817G=
ENST00000564415.5:c.*1918G= ENSP00000456653.1:n.*1918G=
ENST00000565715.1:c.200G= ENSP00000455693.1:p.Arg67=
NM_001195139.1:c.2075G= NP_001182068.1:p.Arg692=
NM_015386.2:c.2138G= NP_056201.2:p.Arg713=
XM_011522981.1:c.1712G= XP_011521283.1:p.Arg571=
XM_011522981.3:c.1712G= XP_011521283.1:p.Arg571=
XM_024450224.1:c.1157G= XP_024305992.1:p.Arg386=
XR_001751889.1:n.2021G=
XR_933266.2:n.2084G=
NM_015386.3:c.2138G= MANE Select NP_056201.2:p.Arg713=
NM_001195139.2:c.2063G= NP_001182068.2:p.Arg688=
NM_001365426.1:c.1712G= NP_001352355.1:p.Arg571=
NR_158212.1:n.2097G=