Canonical Allele Identifier: CA396580726

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517824G>C (hg19) ; chr16:g.70483921G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483921G>C , CM000678.2:g.70483921G>C	GRCh38
NC_000016.9:g.70517824G>C , CM000678.1:g.70517824G>C	GRCh37
NC_000016.8:g.69075325G>C	NCBI36
NG_027529.1:g.44634C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1835C>G	ENSP00000461912.2:n.*1835C>G
ENST00000703106.1:c.1804C>G	ENSP00000515173.1:n.1804C>G
ENST00000703107.1:c.*1688C>G	ENSP00000515174.1:n.*1688C>G
ENST00000703108.1:c.*207C>G	ENSP00000515175.1:n.*207C>G
ENST00000703109.1:c.1792C>G	ENSP00000515176.1:p.Gln598Glu
ENST00000703110.1:c.*1261C>G	ENSP00000515177.1:n.*1261C>G
ENST00000703111.1:n.1766C>G
ENST00000703112.1:n.2532C>G
ENST00000703113.1:c.*1172C>G	ENSP00000515178.1:n.*1172C>G
ENST00000703114.1:c.*408C>G	ENSP00000515179.1:n.*408C>G
ENST00000703115.1:c.872C>G	ENSP00000515180.1:n.872C>G
ENST00000323786.10:c.1759C>G MANE Select	ENSP00000315775.5:p.Gln587Glu
ENST00000564415.6:c.*1539C>G	ENSP00000456653.2:n.*1539C>G
ENST00000674443.1:c.1684C>G	ENSP00000501405.1:p.Gln562Glu
ENST00000323786.9:c.1759C>G	ENSP00000315775.5:p.Gln587Glu
ENST00000393612.8:c.1696C>G	ENSP00000377236.5:p.Gln566Glu
ENST00000482252.5:c.1906C>G	ENSP00000432802.1:n.1906C>G
ENST00000526700.5:n.935C>G
ENST00000530314.5:n.2438C>G
ENST00000564315.1:n.219C>G
ENST00000564415.5:c.*1539C>G	ENSP00000456653.1:n.*1539C>G
NM_001195139.1:c.1696C>G	NP_001182068.1:p.Gln566Glu
NM_015386.2:c.1759C>G	NP_056201.2:p.Gln587Glu
XM_011522981.1:c.1333C>G	XP_011521283.1:p.Gln445Glu
XR_933266.1:n.1705C>G
XR_933267.1:n.1705C>G
XM_011522981.3:c.1333C>G	XP_011521283.1:p.Gln445Glu
XM_024450224.1:c.778C>G	XP_024305992.1:p.Gln260Glu
XR_001751889.1:n.1642C>G
XR_933266.2:n.1705C>G
NM_015386.3:c.1759C>G MANE Select	NP_056201.2:p.Gln587Glu
NM_001195139.2:c.1684C>G	NP_001182068.2:p.Gln562Glu
NM_001365426.1:c.1333C>G	NP_001352355.1:p.Gln445Glu
NR_158212.1:n.1718C>G