Canonical Allele Identifier: CA396580640
Gene: COG4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483884G>A , CM000678.2:g.70483884G>A GRCh38
NC_000016.9:g.70517787G>A , CM000678.1:g.70517787G>A GRCh37
NC_000016.8:g.69075288G>A NCBI36
NG_027529.1:g.44671C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000534772.2:c.*1872C>T ENSP00000461912.2:n.*1872C>T
ENST00000703106.1:c.1841C>T ENSP00000515173.1:n.1841C>T
ENST00000703107.1:c.*1725C>T ENSP00000515174.1:n.*1725C>T
ENST00000703108.1:c.*244C>T ENSP00000515175.1:n.*244C>T
ENST00000703109.1:c.1829C>T ENSP00000515176.1:p.Ala610Val
ENST00000703110.1:c.*1298C>T ENSP00000515177.1:n.*1298C>T
ENST00000703111.1:n.1803C>T
ENST00000703112.1:n.2569C>T
ENST00000703113.1:c.*1209C>T ENSP00000515178.1:n.*1209C>T
ENST00000703114.1:c.*445C>T ENSP00000515179.1:n.*445C>T
ENST00000703115.1:c.909C>T ENSP00000515180.1:n.909C>T
ENST00000323786.10:c.1796C>T MANE Select ENSP00000315775.5:p.Ala599Val
ENST00000564415.6:c.*1576C>T ENSP00000456653.2:n.*1576C>T
ENST00000674443.1:c.1721C>T ENSP00000501405.1:p.Ala574Val
ENST00000323786.9:c.1796C>T ENSP00000315775.5:p.Ala599Val
ENST00000393612.8:c.1733C>T ENSP00000377236.5:p.Ala578Val
ENST00000482252.5:c.1943C>T ENSP00000432802.1:n.1943C>T
ENST00000526700.5:n.972C>T
ENST00000530314.5:n.2475C>T
ENST00000564315.1:n.256C>T
ENST00000564415.5:c.*1576C>T ENSP00000456653.1:n.*1576C>T
NM_001195139.1:c.1733C>T NP_001182068.1:p.Ala578Val
NM_015386.2:c.1796C>T NP_056201.2:p.Ala599Val
XM_011522981.1:c.1370C>T XP_011521283.1:p.Ala457Val
XR_933266.1:n.1742C>T
XR_933267.1:n.1742C>T
XM_011522981.3:c.1370C>T XP_011521283.1:p.Ala457Val
XM_024450224.1:c.815C>T XP_024305992.1:p.Ala272Val
XR_001751889.1:n.1679C>T
XR_933266.2:n.1742C>T
NM_015386.3:c.1796C>T MANE Select NP_056201.2:p.Ala599Val
NM_001195139.2:c.1721C>T NP_001182068.2:p.Ala574Val
NM_001365426.1:c.1370C>T NP_001352355.1:p.Ala457Val
NR_158212.1:n.1755C>T