Canonical Allele Identifier: CA396580715

Gene: COG4

Linked Data

• gnomAD v4: 16-70483917-G-T
• MyVariant Identifiers: chr16:g.70517820G>T (hg19) ; chr16:g.70483917G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483917G>T , CM000678.2:g.70483917G>T	GRCh38
NC_000016.9:g.70517820G>T , CM000678.1:g.70517820G>T	GRCh37
NC_000016.8:g.69075321G>T	NCBI36
NG_027529.1:g.44638C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1839C>A	ENSP00000461912.2:n.*1839C>A
ENST00000703106.1:c.1808C>A	ENSP00000515173.1:n.1808C>A
ENST00000703107.1:c.*1692C>A	ENSP00000515174.1:n.*1692C>A
ENST00000703108.1:c.*211C>A	ENSP00000515175.1:n.*211C>A
ENST00000703109.1:c.1796C>A	ENSP00000515176.1:p.Ala599Asp
ENST00000703110.1:c.*1265C>A	ENSP00000515177.1:n.*1265C>A
ENST00000703111.1:n.1770C>A
ENST00000703112.1:n.2536C>A
ENST00000703113.1:c.*1176C>A	ENSP00000515178.1:n.*1176C>A
ENST00000703114.1:c.*412C>A	ENSP00000515179.1:n.*412C>A
ENST00000703115.1:c.876C>A	ENSP00000515180.1:n.876C>A
ENST00000323786.10:c.1763C>A MANE Select	ENSP00000315775.5:p.Ala588Asp
ENST00000564415.6:c.*1543C>A	ENSP00000456653.2:n.*1543C>A
ENST00000674443.1:c.1688C>A	ENSP00000501405.1:p.Ala563Asp
ENST00000323786.9:c.1763C>A	ENSP00000315775.5:p.Ala588Asp
ENST00000393612.8:c.1700C>A	ENSP00000377236.5:p.Ala567Asp
ENST00000482252.5:c.1910C>A	ENSP00000432802.1:n.1910C>A
ENST00000526700.5:n.939C>A
ENST00000530314.5:n.2442C>A
ENST00000564315.1:n.223C>A
ENST00000564415.5:c.*1543C>A	ENSP00000456653.1:n.*1543C>A
NM_001195139.1:c.1700C>A	NP_001182068.1:p.Ala567Asp
NM_015386.2:c.1763C>A	NP_056201.2:p.Ala588Asp
XM_011522981.1:c.1337C>A	XP_011521283.1:p.Ala446Asp
XR_933266.1:n.1709C>A
XR_933267.1:n.1709C>A
XM_011522981.3:c.1337C>A	XP_011521283.1:p.Ala446Asp
XM_024450224.1:c.782C>A	XP_024305992.1:p.Ala261Asp
XR_001751889.1:n.1646C>A
XR_933266.2:n.1709C>A
NM_015386.3:c.1763C>A MANE Select	NP_056201.2:p.Ala588Asp
NM_001195139.2:c.1688C>A	NP_001182068.2:p.Ala563Asp
NM_001365426.1:c.1337C>A	NP_001352355.1:p.Ala446Asp
NR_158212.1:n.1722C>A