Canonical Allele Identifier: CA396578161
Gene: COG4 HGNC NCBI

Linked Data

dbSNP Id: rs2048989474

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70481415T>G , CM000678.2:g.70481415T>G GRCh38
NC_000016.9:g.70515318T>G , CM000678.1:g.70515318T>G GRCh37
NC_000016.8:g.69072819T>G NCBI36
NG_027529.1:g.47140A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*2255A>C ENSP00000461912.2:n.*2255A>C
ENST00000703106.1:c.2224A>C ENSP00000515173.1:n.2224A>C
ENST00000703107.1:c.*2108A>C ENSP00000515174.1:n.*2108A>C
ENST00000703108.1:c.*627A>C ENSP00000515175.1:n.*627A>C
ENST00000703109.1:c.2212A>C ENSP00000515176.1:p.Ile738Leu
ENST00000703110.1:c.*1681A>C ENSP00000515177.1:n.*1681A>C
ENST00000703111.1:n.2462A>C
ENST00000703112.1:n.3123A>C
ENST00000703113.1:c.*1592A>C ENSP00000515178.1:n.*1592A>C
ENST00000703114.1:c.*828A>C ENSP00000515179.1:n.*828A>C
ENST00000703115.1:c.1292A>C ENSP00000515180.1:n.1292A>C
ENST00000323786.10:c.2179A>C MANE Select ENSP00000315775.5:p.Ile727Leu
ENST00000564415.6:c.*1959A>C ENSP00000456653.2:n.*1959A>C
ENST00000674443.1:c.2104A>C ENSP00000501405.1:p.Ile702Leu
ENST00000323786.9:c.2179A>C ENSP00000315775.5:p.Ile727Leu
ENST00000393612.8:c.2116A>C ENSP00000377236.5:p.Ile706Leu
ENST00000482252.5:c.2326A>C ENSP00000432802.1:n.2326A>C
ENST00000526700.5:n.1355A>C
ENST00000530314.5:n.2858A>C
ENST00000564415.5:c.*1959A>C ENSP00000456653.1:n.*1959A>C
ENST00000565715.1:c.241A>C ENSP00000455693.1:p.Ile81Leu
NM_001195139.1:c.2116A>C NP_001182068.1:p.Ile706Leu
NM_015386.2:c.2179A>C NP_056201.2:p.Ile727Leu
XM_011522981.1:c.1753A>C XP_011521283.1:p.Ile585Leu
XM_011522981.3:c.1753A>C XP_011521283.1:p.Ile585Leu
XM_024450224.1:c.1198A>C XP_024305992.1:p.Ile400Leu
XR_933266.2:n.2125A>C
NM_015386.3:c.2179A>C MANE Select NP_056201.2:p.Ile727Leu
NM_001195139.2:c.2104A>C NP_001182068.2:p.Ile702Leu
NM_001365426.1:c.1753A>C NP_001352355.1:p.Ile585Leu
NR_158212.1:n.2138A>C