Canonical Allele Identifier: CA396580694

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517811T>A (hg19) ; chr16:g.70483908T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483908T>A , CM000678.2:g.70483908T>A	GRCh38
NC_000016.9:g.70517811T>A , CM000678.1:g.70517811T>A	GRCh37
NC_000016.8:g.69075312T>A	NCBI36
NG_027529.1:g.44647A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1848A>T	ENSP00000461912.2:n.*1848A>T
ENST00000703106.1:c.1817A>T	ENSP00000515173.1:n.1817A>T
ENST00000703107.1:c.*1701A>T	ENSP00000515174.1:n.*1701A>T
ENST00000703108.1:c.*220A>T	ENSP00000515175.1:n.*220A>T
ENST00000703109.1:c.1805A>T	ENSP00000515176.1:p.Asp602Val
ENST00000703110.1:c.*1274A>T	ENSP00000515177.1:n.*1274A>T
ENST00000703111.1:n.1779A>T
ENST00000703112.1:n.2545A>T
ENST00000703113.1:c.*1185A>T	ENSP00000515178.1:n.*1185A>T
ENST00000703114.1:c.*421A>T	ENSP00000515179.1:n.*421A>T
ENST00000703115.1:c.885A>T	ENSP00000515180.1:n.885A>T
ENST00000323786.10:c.1772A>T MANE Select	ENSP00000315775.5:p.Asp591Val
ENST00000564415.6:c.*1552A>T	ENSP00000456653.2:n.*1552A>T
ENST00000674443.1:c.1697A>T	ENSP00000501405.1:p.Asp566Val
ENST00000323786.9:c.1772A>T	ENSP00000315775.5:p.Asp591Val
ENST00000393612.8:c.1709A>T	ENSP00000377236.5:p.Asp570Val
ENST00000482252.5:c.1919A>T	ENSP00000432802.1:n.1919A>T
ENST00000526700.5:n.948A>T
ENST00000530314.5:n.2451A>T
ENST00000564315.1:n.232A>T
ENST00000564415.5:c.*1552A>T	ENSP00000456653.1:n.*1552A>T
NM_001195139.1:c.1709A>T	NP_001182068.1:p.Asp570Val
NM_015386.2:c.1772A>T	NP_056201.2:p.Asp591Val
XM_011522981.1:c.1346A>T	XP_011521283.1:p.Asp449Val
XR_933266.1:n.1718A>T
XR_933267.1:n.1718A>T
XM_011522981.3:c.1346A>T	XP_011521283.1:p.Asp449Val
XM_024450224.1:c.791A>T	XP_024305992.1:p.Asp264Val
XR_001751889.1:n.1655A>T
XR_933266.2:n.1718A>T
NM_015386.3:c.1772A>T MANE Select	NP_056201.2:p.Asp591Val
NM_001195139.2:c.1697A>T	NP_001182068.2:p.Asp566Val
NM_001365426.1:c.1346A>T	NP_001352355.1:p.Asp449Val
NR_158212.1:n.1731A>T