Canonical Allele Identifier: CA396580779

Gene: COG4

Linked Data

• COSMIC: COSM6384872
• MyVariant Identifiers: chr16:g.70517849G>T (hg19) ; chr16:g.70483946G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483946G>T , CM000678.2:g.70483946G>T	GRCh38
NC_000016.9:g.70517849G>T , CM000678.1:g.70517849G>T	GRCh37
NC_000016.8:g.69075350G>T	NCBI36
NG_027529.1:g.44609C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1810C>A	ENSP00000461912.2:n.*1810C>A
ENST00000703106.1:c.1779C>A	ENSP00000515173.1:n.1779C>A
ENST00000703107.1:c.*1663C>A	ENSP00000515174.1:n.*1663C>A
ENST00000703108.1:c.*182C>A	ENSP00000515175.1:n.*182C>A
ENST00000703109.1:c.1767C>A	ENSP00000515176.1:p.Ser589Arg
ENST00000703110.1:c.*1236C>A	ENSP00000515177.1:n.*1236C>A
ENST00000703111.1:n.1741C>A
ENST00000703112.1:n.2507C>A
ENST00000703113.1:c.*1147C>A	ENSP00000515178.1:n.*1147C>A
ENST00000703114.1:c.*383C>A	ENSP00000515179.1:n.*383C>A
ENST00000703115.1:c.847C>A	ENSP00000515180.1:n.847C>A
ENST00000323786.10:c.1734C>A MANE Select	ENSP00000315775.5:p.Ser578Arg
ENST00000564415.6:c.*1514C>A	ENSP00000456653.2:n.*1514C>A
ENST00000674443.1:c.1659C>A	ENSP00000501405.1:p.Ser553Arg
ENST00000323786.9:c.1734C>A	ENSP00000315775.5:p.Ser578Arg
ENST00000393612.8:c.1671C>A	ENSP00000377236.5:p.Ser557Arg
ENST00000482252.5:c.1881C>A	ENSP00000432802.1:n.1881C>A
ENST00000526700.5:n.910C>A
ENST00000530314.5:n.2413C>A
ENST00000564315.1:n.194C>A
ENST00000564415.5:c.*1514C>A	ENSP00000456653.1:n.*1514C>A
NM_001195139.1:c.1671C>A	NP_001182068.1:p.Ser557Arg
NM_015386.2:c.1734C>A	NP_056201.2:p.Ser578Arg
XM_011522981.1:c.1308C>A	XP_011521283.1:p.Ser436Arg
XR_933266.1:n.1680C>A
XR_933267.1:n.1680C>A
XM_011522981.3:c.1308C>A	XP_011521283.1:p.Ser436Arg
XM_024450224.1:c.753C>A	XP_024305992.1:p.Ser251Arg
XR_001751889.1:n.1617C>A
XR_933266.2:n.1680C>A
NM_015386.3:c.1734C>A MANE Select	NP_056201.2:p.Ser578Arg
NM_001195139.2:c.1659C>A	NP_001182068.2:p.Ser553Arg
NM_001365426.1:c.1308C>A	NP_001352355.1:p.Ser436Arg
NR_158212.1:n.1693C>A