Canonical Allele Identifier: CA396580626

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517779T>A (hg19) ; chr16:g.70483876T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483876T>A , CM000678.2:g.70483876T>A	GRCh38
NC_000016.9:g.70517779T>A , CM000678.1:g.70517779T>A	GRCh37
NC_000016.8:g.69075280T>A	NCBI36
NG_027529.1:g.44679A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1880A>T	ENSP00000461912.2:n.*1880A>T
ENST00000703106.1:c.1849A>T	ENSP00000515173.1:n.1849A>T
ENST00000703107.1:c.*1733A>T	ENSP00000515174.1:n.*1733A>T
ENST00000703108.1:c.*252A>T	ENSP00000515175.1:n.*252A>T
ENST00000703109.1:c.1837A>T	ENSP00000515176.1:p.Asn613Tyr
ENST00000703110.1:c.*1306A>T	ENSP00000515177.1:n.*1306A>T
ENST00000703111.1:n.1811A>T
ENST00000703112.1:n.2577A>T
ENST00000703113.1:c.*1217A>T	ENSP00000515178.1:n.*1217A>T
ENST00000703114.1:c.*453A>T	ENSP00000515179.1:n.*453A>T
ENST00000703115.1:c.917A>T	ENSP00000515180.1:n.917A>T
ENST00000323786.10:c.1804A>T MANE Select	ENSP00000315775.5:p.Asn602Tyr
ENST00000564415.6:c.*1584A>T	ENSP00000456653.2:n.*1584A>T
ENST00000674443.1:c.1729A>T	ENSP00000501405.1:p.Asn577Tyr
ENST00000323786.9:c.1804A>T	ENSP00000315775.5:p.Asn602Tyr
ENST00000393612.8:c.1741A>T	ENSP00000377236.5:p.Asn581Tyr
ENST00000482252.5:c.1951A>T	ENSP00000432802.1:n.1951A>T
ENST00000526700.5:n.980A>T
ENST00000530314.5:n.2483A>T
ENST00000564315.1:n.264A>T
ENST00000564415.5:c.*1584A>T	ENSP00000456653.1:n.*1584A>T
NM_001195139.1:c.1741A>T	NP_001182068.1:p.Asn581Tyr
NM_015386.2:c.1804A>T	NP_056201.2:p.Asn602Tyr
XM_011522981.1:c.1378A>T	XP_011521283.1:p.Asn460Tyr
XR_933266.1:n.1750A>T
XR_933267.1:n.1750A>T
XM_011522981.3:c.1378A>T	XP_011521283.1:p.Asn460Tyr
XM_024450224.1:c.823A>T	XP_024305992.1:p.Asn275Tyr
XR_001751889.1:n.1687A>T
XR_933266.2:n.1750A>T
NM_015386.3:c.1804A>T MANE Select	NP_056201.2:p.Asn602Tyr
NM_001195139.2:c.1729A>T	NP_001182068.2:p.Asn577Tyr
NM_001365426.1:c.1378A>T	NP_001352355.1:p.Asn460Tyr
NR_158212.1:n.1763A>T