Canonical Allele Identifier: CA396580788

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517853A>T (hg19) ; chr16:g.70483950A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483950A>T , CM000678.2:g.70483950A>T	GRCh38
NC_000016.9:g.70517853A>T , CM000678.1:g.70517853A>T	GRCh37
NC_000016.8:g.69075354A>T	NCBI36
NG_027529.1:g.44605T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1806T>A	ENSP00000461912.2:n.*1806T>A
ENST00000703106.1:c.1775T>A	ENSP00000515173.1:n.1775T>A
ENST00000703107.1:c.*1659T>A	ENSP00000515174.1:n.*1659T>A
ENST00000703108.1:c.*178T>A	ENSP00000515175.1:n.*178T>A
ENST00000703109.1:c.1763T>A	ENSP00000515176.1:p.Phe588Tyr
ENST00000703110.1:c.*1232T>A	ENSP00000515177.1:n.*1232T>A
ENST00000703111.1:n.1737T>A
ENST00000703112.1:n.2503T>A
ENST00000703113.1:c.*1143T>A	ENSP00000515178.1:n.*1143T>A
ENST00000703114.1:c.*379T>A	ENSP00000515179.1:n.*379T>A
ENST00000703115.1:c.843T>A	ENSP00000515180.1:n.843T>A
ENST00000323786.10:c.1730T>A MANE Select	ENSP00000315775.5:p.Phe577Tyr
ENST00000564415.6:c.*1510T>A	ENSP00000456653.2:n.*1510T>A
ENST00000674443.1:c.1655T>A	ENSP00000501405.1:p.Phe552Tyr
ENST00000323786.9:c.1730T>A	ENSP00000315775.5:p.Phe577Tyr
ENST00000393612.8:c.1667T>A	ENSP00000377236.5:p.Phe556Tyr
ENST00000482252.5:c.1877T>A	ENSP00000432802.1:n.1877T>A
ENST00000526700.5:n.906T>A
ENST00000530314.5:n.2409T>A
ENST00000564315.1:n.190T>A
ENST00000564415.5:c.*1510T>A	ENSP00000456653.1:n.*1510T>A
NM_001195139.1:c.1667T>A	NP_001182068.1:p.Phe556Tyr
NM_015386.2:c.1730T>A	NP_056201.2:p.Phe577Tyr
XM_011522981.1:c.1304T>A	XP_011521283.1:p.Phe435Tyr
XR_933266.1:n.1676T>A
XR_933267.1:n.1676T>A
XM_011522981.3:c.1304T>A	XP_011521283.1:p.Phe435Tyr
XM_024450224.1:c.749T>A	XP_024305992.1:p.Phe250Tyr
XR_001751889.1:n.1613T>A
XR_933266.2:n.1676T>A
NM_015386.3:c.1730T>A MANE Select	NP_056201.2:p.Phe577Tyr
NM_001195139.2:c.1655T>A	NP_001182068.2:p.Phe552Tyr
NM_001365426.1:c.1304T>A	NP_001352355.1:p.Phe435Tyr
NR_158212.1:n.1689T>A