Canonical Allele Identifier: CA396580688

Gene: COG4

Linked Data

• gnomAD v4: 16-70483905-C-T
• MyVariant Identifiers: chr16:g.70517808C>T (hg19) ; chr16:g.70483905C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483905C>T , CM000678.2:g.70483905C>T	GRCh38
NC_000016.9:g.70517808C>T , CM000678.1:g.70517808C>T	GRCh37
NC_000016.8:g.69075309C>T	NCBI36
NG_027529.1:g.44650G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1851G>A	ENSP00000461912.2:n.*1851G>A
ENST00000703106.1:c.1820G>A	ENSP00000515173.1:n.1820G>A
ENST00000703107.1:c.*1704G>A	ENSP00000515174.1:n.*1704G>A
ENST00000703108.1:c.*223G>A	ENSP00000515175.1:n.*223G>A
ENST00000703109.1:c.1808G>A	ENSP00000515176.1:p.Ser603Asn
ENST00000703110.1:c.*1277G>A	ENSP00000515177.1:n.*1277G>A
ENST00000703111.1:n.1782G>A
ENST00000703112.1:n.2548G>A
ENST00000703113.1:c.*1188G>A	ENSP00000515178.1:n.*1188G>A
ENST00000703114.1:c.*424G>A	ENSP00000515179.1:n.*424G>A
ENST00000703115.1:c.888G>A	ENSP00000515180.1:n.888G>A
ENST00000323786.10:c.1775G>A MANE Select	ENSP00000315775.5:p.Ser592Asn
ENST00000564415.6:c.*1555G>A	ENSP00000456653.2:n.*1555G>A
ENST00000674443.1:c.1700G>A	ENSP00000501405.1:p.Ser567Asn
ENST00000323786.9:c.1775G>A	ENSP00000315775.5:p.Ser592Asn
ENST00000393612.8:c.1712G>A	ENSP00000377236.5:p.Ser571Asn
ENST00000482252.5:c.1922G>A	ENSP00000432802.1:n.1922G>A
ENST00000526700.5:n.951G>A
ENST00000530314.5:n.2454G>A
ENST00000564315.1:n.235G>A
ENST00000564415.5:c.*1555G>A	ENSP00000456653.1:n.*1555G>A
NM_001195139.1:c.1712G>A	NP_001182068.1:p.Ser571Asn
NM_015386.2:c.1775G>A	NP_056201.2:p.Ser592Asn
XM_011522981.1:c.1349G>A	XP_011521283.1:p.Ser450Asn
XR_933266.1:n.1721G>A
XR_933267.1:n.1721G>A
XM_011522981.3:c.1349G>A	XP_011521283.1:p.Ser450Asn
XM_024450224.1:c.794G>A	XP_024305992.1:p.Ser265Asn
XR_001751889.1:n.1658G>A
XR_933266.2:n.1721G>A
NM_015386.3:c.1775G>A MANE Select	NP_056201.2:p.Ser592Asn
NM_001195139.2:c.1700G>A	NP_001182068.2:p.Ser567Asn
NM_001365426.1:c.1349G>A	NP_001352355.1:p.Ser450Asn
NR_158212.1:n.1734G>A