Canonical Allele Identifier: CA396578381
Gene: COG4 HGNC NCBI

Linked Data

dbSNP Id: rs1310795789

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70481447A>G , CM000678.2:g.70481447A>G GRCh38
NC_000016.9:g.70515350A>G , CM000678.1:g.70515350A>G GRCh37
NC_000016.8:g.69072851A>G NCBI36
NG_027529.1:g.47108T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*2223T>C ENSP00000461912.2:n.*2223T>C
ENST00000703106.1:c.2192T>C ENSP00000515173.1:n.2192T>C
ENST00000703107.1:c.*2076T>C ENSP00000515174.1:n.*2076T>C
ENST00000703108.1:c.*595T>C ENSP00000515175.1:n.*595T>C
ENST00000703109.1:c.2180T>C ENSP00000515176.1:p.Ile727Thr
ENST00000703110.1:c.*1649T>C ENSP00000515177.1:n.*1649T>C
ENST00000703111.1:n.2430T>C
ENST00000703112.1:n.3091T>C
ENST00000703113.1:c.*1560T>C ENSP00000515178.1:n.*1560T>C
ENST00000703114.1:c.*796T>C ENSP00000515179.1:n.*796T>C
ENST00000703115.1:c.1260T>C ENSP00000515180.1:n.1260T>C
ENST00000323786.10:c.2147T>C MANE Select ENSP00000315775.5:p.Ile716Thr
ENST00000564415.6:c.*1927T>C ENSP00000456653.2:n.*1927T>C
ENST00000674443.1:c.2072T>C ENSP00000501405.1:p.Ile691Thr
ENST00000323786.9:c.2147T>C ENSP00000315775.5:p.Ile716Thr
ENST00000393612.8:c.2084T>C ENSP00000377236.5:p.Ile695Thr
ENST00000482252.5:c.2294T>C ENSP00000432802.1:n.2294T>C
ENST00000526700.5:n.1323T>C
ENST00000530314.5:n.2826T>C
ENST00000564415.5:c.*1927T>C ENSP00000456653.1:n.*1927T>C
ENST00000565715.1:c.209T>C ENSP00000455693.1:p.Ile70Thr
NM_001195139.1:c.2084T>C NP_001182068.1:p.Ile695Thr
NM_015386.2:c.2147T>C NP_056201.2:p.Ile716Thr
XM_011522981.1:c.1721T>C XP_011521283.1:p.Ile574Thr
XM_011522981.3:c.1721T>C XP_011521283.1:p.Ile574Thr
XM_024450224.1:c.1166T>C XP_024305992.1:p.Ile389Thr
XR_933266.2:n.2093T>C
NM_015386.3:c.2147T>C MANE Select NP_056201.2:p.Ile716Thr
NM_001195139.2:c.2072T>C NP_001182068.2:p.Ile691Thr
NM_001365426.1:c.1721T>C NP_001352355.1:p.Ile574Thr
NR_158212.1:n.2106T>C