Canonical Allele Identifier: CA396580778

Gene: COG4

Linked Data

• dbSNP Id: rs779559679
• gnomAD v3: 16-70483946-G-C
• gnomAD v4: 16-70483946-G-C
• MyVariant Identifiers: chr16:g.70517849G>C (hg19) ; chr16:g.70483946G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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