Canonical Allele Identifier: CA2634068659
Gene: COG4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70483986C>T , CM000678.2:g.70483986C>T GRCh38
NC_000016.9:g.70517889C>T , CM000678.1:g.70517889C>T GRCh37
NC_000016.8:g.69075390C>T NCBI36
NG_027529.1:g.44569G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000534772.2:c.*1787-17G>A ENSP00000461912.2:n.*1787-17G>A
ENST00000703106.1:c.1739G>A ENSP00000515173.1:p.Ser580Asn
ENST00000703107.1:c.*1640-17G>A ENSP00000515174.1:n.*1640-17G>A
ENST00000703108.1:c.*159-17G>A ENSP00000515175.1:n.*159-17G>A
ENST00000703109.1:c.1744-17G>A ENSP00000515176.1:n.1744-17G>A
ENST00000703110.1:c.*1213-17G>A ENSP00000515177.1:n.*1213-17G>A
ENST00000703111.1:n.1718-17G>A
ENST00000703112.1:n.2484-17G>A
ENST00000703113.1:c.*1124-17G>A ENSP00000515178.1:n.*1124-17G>A
ENST00000703114.1:c.*360-17G>A ENSP00000515179.1:n.*360-17G>A
ENST00000703115.1:c.824-17G>A ENSP00000515180.1:n.824-17G>A
ENST00000323786.10:c.1711-17G>A MANE Select ENSP00000315775.5:n.1711-17G>A
ENST00000564415.6:c.*1491-17G>A ENSP00000456653.2:n.*1491-17G>A
ENST00000674443.1:c.1636-17G>A ENSP00000501405.1:n.1636-17G>A
ENST00000323786.9:c.1711-17G>A ENSP00000315775.5:n.1711-17G>A
ENST00000393612.8:c.1648-17G>A ENSP00000377236.5:n.1648-17G>A
ENST00000482252.5:c.1858-17G>A ENSP00000432802.1:n.1858-17G>A
ENST00000526700.5:n.887-17G>A
ENST00000530314.5:n.2390-17G>A
ENST00000564315.1:n.171-17G>A
ENST00000564415.5:c.*1491-17G>A ENSP00000456653.1:n.*1491-17G>A
NM_001195139.1:c.1648-17G>A NP_001182068.1:n.1648-17G>A
NM_015386.2:c.1711-17G>A NP_056201.2:n.1711-17G>A
XM_011522981.1:c.1285-17G>A XP_011521283.1:n.1285-17G>A
XR_933266.1:n.1657-17G>A
XR_933267.1:n.1657-17G>A
XM_011522981.3:c.1285-17G>A XP_011521283.1:n.1285-17G>A
XM_024450224.1:c.730-17G>A XP_024305992.1:n.730-17G>A
XR_001751889.1:n.1594-17G>A
XR_933266.2:n.1657-17G>A
NM_015386.3:c.1711-17G>A MANE Select NP_056201.2:n.1711-17G>A
NM_001195139.2:c.1636-17G>A NP_001182068.2:n.1636-17G>A
NM_001365426.1:c.1285-17G>A NP_001352355.1:n.1285-17G>A
NR_158212.1:n.1670-17G>A