Canonical Allele Identifier: CA2838848547
Gene: COG4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70481399dup , CM000678.2:g.70481399dup GRCh38
NC_000016.9:g.70515302dup , CM000678.1:g.70515302dup GRCh37
NC_000016.8:g.69072803dup NCBI36
NG_027529.1:g.47158dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*2273dup ENSP00000461912.2:n.*2273dup
ENST00000703106.1:c.2242dup ENSP00000515173.1:n.2242dup
ENST00000703107.1:c.*2126dup ENSP00000515174.1:n.*2126dup
ENST00000703108.1:c.*645dup ENSP00000515175.1:n.*645dup
ENST00000703109.1:c.2230dup ENSP00000515176.1:p.Arg744ProfsTer?
ENST00000703110.1:c.*1699dup ENSP00000515177.1:n.*1699dup
ENST00000703111.1:n.2480dup
ENST00000703112.1:n.3141dup
ENST00000703113.1:c.*1610dup ENSP00000515178.1:n.*1610dup
ENST00000703114.1:c.*846dup ENSP00000515179.1:n.*846dup
ENST00000703115.1:c.1310dup ENSP00000515180.1:n.1310dup
ENST00000323786.10:c.2197dup MANE Select ENSP00000315775.5:p.Arg733ProfsTer?
ENST00000564415.6:c.*1977dup ENSP00000456653.2:n.*1977dup
ENST00000674443.1:c.2122dup ENSP00000501405.1:p.Arg708ProfsTer?
ENST00000323786.9:c.2197dup ENSP00000315775.5:p.Arg733ProfsTer?
ENST00000393612.8:c.2134dup ENSP00000377236.5:p.Arg712ProfsTer?
ENST00000482252.5:c.2344dup ENSP00000432802.1:n.2344dup
ENST00000526700.5:n.1373dup
ENST00000530314.5:n.2876dup
ENST00000564415.5:c.*1977dup ENSP00000456653.1:n.*1977dup
ENST00000565715.1:c.259dup ENSP00000455693.1:p.Arg87ProfsTer?
NM_001195139.1:c.2134dup NP_001182068.1:p.Arg712ProfsTer?
NM_015386.2:c.2197dup NP_056201.2:p.Arg733ProfsTer?
XM_011522981.1:c.1771dup XP_011521283.1:p.Arg591ProfsTer?
XM_011522981.3:c.1771dup XP_011521283.1:p.Arg591ProfsTer?
XM_024450224.1:c.1216dup XP_024305992.1:p.Arg406ProfsTer?
XR_933266.2:n.2143dup
NM_015386.3:c.2197dup MANE Select NP_056201.2:p.Arg733ProfsTer?
NM_001195139.2:c.2122dup NP_001182068.2:p.Arg708ProfsTer?
NM_001365426.1:c.1771dup NP_001352355.1:p.Arg591ProfsTer?
NR_158212.1:n.2156dup