Canonical Allele Identifier: CA396580754

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517838C>T (hg19) ; chr16:g.70483935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483935C>T , CM000678.2:g.70483935C>T	GRCh38
NC_000016.9:g.70517838C>T , CM000678.1:g.70517838C>T	GRCh37
NC_000016.8:g.69075339C>T	NCBI36
NG_027529.1:g.44620G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1821G>A	ENSP00000461912.2:n.*1821G>A
ENST00000703106.1:c.1790G>A	ENSP00000515173.1:n.1790G>A
ENST00000703107.1:c.*1674G>A	ENSP00000515174.1:n.*1674G>A
ENST00000703108.1:c.*193G>A	ENSP00000515175.1:n.*193G>A
ENST00000703109.1:c.1778G>A	ENSP00000515176.1:p.Gly593Glu
ENST00000703110.1:c.*1247G>A	ENSP00000515177.1:n.*1247G>A
ENST00000703111.1:n.1752G>A
ENST00000703112.1:n.2518G>A
ENST00000703113.1:c.*1158G>A	ENSP00000515178.1:n.*1158G>A
ENST00000703114.1:c.*394G>A	ENSP00000515179.1:n.*394G>A
ENST00000703115.1:c.858G>A	ENSP00000515180.1:n.858G>A
ENST00000323786.10:c.1745G>A MANE Select	ENSP00000315775.5:p.Gly582Glu
ENST00000564415.6:c.*1525G>A	ENSP00000456653.2:n.*1525G>A
ENST00000674443.1:c.1670G>A	ENSP00000501405.1:p.Gly557Glu
ENST00000323786.9:c.1745G>A	ENSP00000315775.5:p.Gly582Glu
ENST00000393612.8:c.1682G>A	ENSP00000377236.5:p.Gly561Glu
ENST00000482252.5:c.1892G>A	ENSP00000432802.1:n.1892G>A
ENST00000526700.5:n.921G>A
ENST00000530314.5:n.2424G>A
ENST00000564315.1:n.205G>A
ENST00000564415.5:c.*1525G>A	ENSP00000456653.1:n.*1525G>A
NM_001195139.1:c.1682G>A	NP_001182068.1:p.Gly561Glu
NM_015386.2:c.1745G>A	NP_056201.2:p.Gly582Glu
XM_011522981.1:c.1319G>A	XP_011521283.1:p.Gly440Glu
XR_933266.1:n.1691G>A
XR_933267.1:n.1691G>A
XM_011522981.3:c.1319G>A	XP_011521283.1:p.Gly440Glu
XM_024450224.1:c.764G>A	XP_024305992.1:p.Gly255Glu
XR_001751889.1:n.1628G>A
XR_933266.2:n.1691G>A
NM_015386.3:c.1745G>A MANE Select	NP_056201.2:p.Gly582Glu
NM_001195139.2:c.1670G>A	NP_001182068.2:p.Gly557Glu
NM_001365426.1:c.1319G>A	NP_001352355.1:p.Gly440Glu
NR_158212.1:n.1704G>A