Canonical Allele Identifier: CA396580639

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517787G>T (hg19) ; chr16:g.70483884G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483884G>T , CM000678.2:g.70483884G>T	GRCh38
NC_000016.9:g.70517787G>T , CM000678.1:g.70517787G>T	GRCh37
NC_000016.8:g.69075288G>T	NCBI36
NG_027529.1:g.44671C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1872C>A	ENSP00000461912.2:n.*1872C>A
ENST00000703106.1:c.1841C>A	ENSP00000515173.1:n.1841C>A
ENST00000703107.1:c.*1725C>A	ENSP00000515174.1:n.*1725C>A
ENST00000703108.1:c.*244C>A	ENSP00000515175.1:n.*244C>A
ENST00000703109.1:c.1829C>A	ENSP00000515176.1:p.Ala610Asp
ENST00000703110.1:c.*1298C>A	ENSP00000515177.1:n.*1298C>A
ENST00000703111.1:n.1803C>A
ENST00000703112.1:n.2569C>A
ENST00000703113.1:c.*1209C>A	ENSP00000515178.1:n.*1209C>A
ENST00000703114.1:c.*445C>A	ENSP00000515179.1:n.*445C>A
ENST00000703115.1:c.909C>A	ENSP00000515180.1:n.909C>A
ENST00000323786.10:c.1796C>A MANE Select	ENSP00000315775.5:p.Ala599Asp
ENST00000564415.6:c.*1576C>A	ENSP00000456653.2:n.*1576C>A
ENST00000674443.1:c.1721C>A	ENSP00000501405.1:p.Ala574Asp
ENST00000323786.9:c.1796C>A	ENSP00000315775.5:p.Ala599Asp
ENST00000393612.8:c.1733C>A	ENSP00000377236.5:p.Ala578Asp
ENST00000482252.5:c.1943C>A	ENSP00000432802.1:n.1943C>A
ENST00000526700.5:n.972C>A
ENST00000530314.5:n.2475C>A
ENST00000564315.1:n.256C>A
ENST00000564415.5:c.*1576C>A	ENSP00000456653.1:n.*1576C>A
NM_001195139.1:c.1733C>A	NP_001182068.1:p.Ala578Asp
NM_015386.2:c.1796C>A	NP_056201.2:p.Ala599Asp
XM_011522981.1:c.1370C>A	XP_011521283.1:p.Ala457Asp
XR_933266.1:n.1742C>A
XR_933267.1:n.1742C>A
XM_011522981.3:c.1370C>A	XP_011521283.1:p.Ala457Asp
XM_024450224.1:c.815C>A	XP_024305992.1:p.Ala272Asp
XR_001751889.1:n.1679C>A
XR_933266.2:n.1742C>A
NM_015386.3:c.1796C>A MANE Select	NP_056201.2:p.Ala599Asp
NM_001195139.2:c.1721C>A	NP_001182068.2:p.Ala574Asp
NM_001365426.1:c.1370C>A	NP_001352355.1:p.Ala457Asp
NR_158212.1:n.1755C>A