Canonical Allele Identifier: CA396580690

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517809T>C (hg19) ; chr16:g.70483906T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483906T>C , CM000678.2:g.70483906T>C	GRCh38
NC_000016.9:g.70517809T>C , CM000678.1:g.70517809T>C	GRCh37
NC_000016.8:g.69075310T>C	NCBI36
NG_027529.1:g.44649A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1850A>G	ENSP00000461912.2:n.*1850A>G
ENST00000703106.1:c.1819A>G	ENSP00000515173.1:n.1819A>G
ENST00000703107.1:c.*1703A>G	ENSP00000515174.1:n.*1703A>G
ENST00000703108.1:c.*222A>G	ENSP00000515175.1:n.*222A>G
ENST00000703109.1:c.1807A>G	ENSP00000515176.1:p.Ser603Gly
ENST00000703110.1:c.*1276A>G	ENSP00000515177.1:n.*1276A>G
ENST00000703111.1:n.1781A>G
ENST00000703112.1:n.2547A>G
ENST00000703113.1:c.*1187A>G	ENSP00000515178.1:n.*1187A>G
ENST00000703114.1:c.*423A>G	ENSP00000515179.1:n.*423A>G
ENST00000703115.1:c.887A>G	ENSP00000515180.1:n.887A>G
ENST00000323786.10:c.1774A>G MANE Select	ENSP00000315775.5:p.Ser592Gly
ENST00000564415.6:c.*1554A>G	ENSP00000456653.2:n.*1554A>G
ENST00000674443.1:c.1699A>G	ENSP00000501405.1:p.Ser567Gly
ENST00000323786.9:c.1774A>G	ENSP00000315775.5:p.Ser592Gly
ENST00000393612.8:c.1711A>G	ENSP00000377236.5:p.Ser571Gly
ENST00000482252.5:c.1921A>G	ENSP00000432802.1:n.1921A>G
ENST00000526700.5:n.950A>G
ENST00000530314.5:n.2453A>G
ENST00000564315.1:n.234A>G
ENST00000564415.5:c.*1554A>G	ENSP00000456653.1:n.*1554A>G
NM_001195139.1:c.1711A>G	NP_001182068.1:p.Ser571Gly
NM_015386.2:c.1774A>G	NP_056201.2:p.Ser592Gly
XM_011522981.1:c.1348A>G	XP_011521283.1:p.Ser450Gly
XR_933266.1:n.1720A>G
XR_933267.1:n.1720A>G
XM_011522981.3:c.1348A>G	XP_011521283.1:p.Ser450Gly
XM_024450224.1:c.793A>G	XP_024305992.1:p.Ser265Gly
XR_001751889.1:n.1657A>G
XR_933266.2:n.1720A>G
NM_015386.3:c.1774A>G MANE Select	NP_056201.2:p.Ser592Gly
NM_001195139.2:c.1699A>G	NP_001182068.2:p.Ser567Gly
NM_001365426.1:c.1348A>G	NP_001352355.1:p.Ser450Gly
NR_158212.1:n.1733A>G