Canonical Allele Identifier: CA396580776

Gene: COG4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1811C>A	ENSP00000461912.2:n.*1811C>A
ENST00000703106.1:c.1780C>A	ENSP00000515173.1:n.1780C>A
ENST00000703107.1:c.*1664C>A	ENSP00000515174.1:n.*1664C>A
ENST00000703108.1:c.*183C>A	ENSP00000515175.1:n.*183C>A
ENST00000703109.1:c.1768C>A	ENSP00000515176.1:p.Gln590Lys
ENST00000703110.1:c.*1237C>A	ENSP00000515177.1:n.*1237C>A
ENST00000703111.1:n.1742C>A
ENST00000703112.1:n.2508C>A
ENST00000703113.1:c.*1148C>A	ENSP00000515178.1:n.*1148C>A
ENST00000703114.1:c.*384C>A	ENSP00000515179.1:n.*384C>A
ENST00000703115.1:c.848C>A	ENSP00000515180.1:n.848C>A
ENST00000323786.10:c.1735C>A MANE Select	ENSP00000315775.5:p.Gln579Lys
ENST00000564415.6:c.*1515C>A	ENSP00000456653.2:n.*1515C>A
ENST00000674443.1:c.1660C>A	ENSP00000501405.1:p.Gln554Lys
ENST00000323786.9:c.1735C>A	ENSP00000315775.5:p.Gln579Lys
ENST00000393612.8:c.1672C>A	ENSP00000377236.5:p.Gln558Lys
ENST00000482252.5:c.1882C>A	ENSP00000432802.1:n.1882C>A
ENST00000526700.5:n.911C>A
ENST00000530314.5:n.2414C>A
ENST00000564315.1:n.195C>A
ENST00000564415.5:c.*1515C>A	ENSP00000456653.1:n.*1515C>A
NM_001195139.1:c.1672C>A	NP_001182068.1:p.Gln558Lys
NM_015386.2:c.1735C>A	NP_056201.2:p.Gln579Lys
XM_011522981.1:c.1309C>A	XP_011521283.1:p.Gln437Lys
XR_933266.1:n.1681C>A
XR_933267.1:n.1681C>A
XM_011522981.3:c.1309C>A	XP_011521283.1:p.Gln437Lys
XM_024450224.1:c.754C>A	XP_024305992.1:p.Gln252Lys
XR_001751889.1:n.1618C>A
XR_933266.2:n.1681C>A
NM_015386.3:c.1735C>A MANE Select	NP_056201.2:p.Gln579Lys
NM_001195139.2:c.1660C>A	NP_001182068.2:p.Gln554Lys
NM_001365426.1:c.1309C>A	NP_001352355.1:p.Gln437Lys
NR_158212.1:n.1694C>A