Canonical Allele Identifier: CA396580777

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517848G>C (hg19) ; chr16:g.70483945G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483945G>C , CM000678.2:g.70483945G>C	GRCh38
NC_000016.9:g.70517848G>C , CM000678.1:g.70517848G>C	GRCh37
NC_000016.8:g.69075349G>C	NCBI36
NG_027529.1:g.44610C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1811C>G	ENSP00000461912.2:n.*1811C>G
ENST00000703106.1:c.1780C>G	ENSP00000515173.1:n.1780C>G
ENST00000703107.1:c.*1664C>G	ENSP00000515174.1:n.*1664C>G
ENST00000703108.1:c.*183C>G	ENSP00000515175.1:n.*183C>G
ENST00000703109.1:c.1768C>G	ENSP00000515176.1:p.Gln590Glu
ENST00000703110.1:c.*1237C>G	ENSP00000515177.1:n.*1237C>G
ENST00000703111.1:n.1742C>G
ENST00000703112.1:n.2508C>G
ENST00000703113.1:c.*1148C>G	ENSP00000515178.1:n.*1148C>G
ENST00000703114.1:c.*384C>G	ENSP00000515179.1:n.*384C>G
ENST00000703115.1:c.848C>G	ENSP00000515180.1:n.848C>G
ENST00000323786.10:c.1735C>G MANE Select	ENSP00000315775.5:p.Gln579Glu
ENST00000564415.6:c.*1515C>G	ENSP00000456653.2:n.*1515C>G
ENST00000674443.1:c.1660C>G	ENSP00000501405.1:p.Gln554Glu
ENST00000323786.9:c.1735C>G	ENSP00000315775.5:p.Gln579Glu
ENST00000393612.8:c.1672C>G	ENSP00000377236.5:p.Gln558Glu
ENST00000482252.5:c.1882C>G	ENSP00000432802.1:n.1882C>G
ENST00000526700.5:n.911C>G
ENST00000530314.5:n.2414C>G
ENST00000564315.1:n.195C>G
ENST00000564415.5:c.*1515C>G	ENSP00000456653.1:n.*1515C>G
NM_001195139.1:c.1672C>G	NP_001182068.1:p.Gln558Glu
NM_015386.2:c.1735C>G	NP_056201.2:p.Gln579Glu
XM_011522981.1:c.1309C>G	XP_011521283.1:p.Gln437Glu
XR_933266.1:n.1681C>G
XR_933267.1:n.1681C>G
XM_011522981.3:c.1309C>G	XP_011521283.1:p.Gln437Glu
XM_024450224.1:c.754C>G	XP_024305992.1:p.Gln252Glu
XR_001751889.1:n.1618C>G
XR_933266.2:n.1681C>G
NM_015386.3:c.1735C>G MANE Select	NP_056201.2:p.Gln579Glu
NM_001195139.2:c.1660C>G	NP_001182068.2:p.Gln554Glu
NM_001365426.1:c.1309C>G	NP_001352355.1:p.Gln437Glu
NR_158212.1:n.1694C>G