Canonical Allele Identifier: CA396580716

Gene: COG4

Linked Data

• dbSNP Id: rs1957757712
• gnomAD v3: 16-70483917-G-A
• gnomAD v4: 16-70483917-G-A
• COSMIC: COSM3795068
• MyVariant Identifiers: chr16:g.70517820G>A (hg19) ; chr16:g.70483917G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1839C>T	ENSP00000461912.2:n.*1839C>T
ENST00000703106.1:c.1808C>T	ENSP00000515173.1:n.1808C>T
ENST00000703107.1:c.*1692C>T	ENSP00000515174.1:n.*1692C>T
ENST00000703108.1:c.*211C>T	ENSP00000515175.1:n.*211C>T
ENST00000703109.1:c.1796C>T	ENSP00000515176.1:p.Ala599Val
ENST00000703110.1:c.*1265C>T	ENSP00000515177.1:n.*1265C>T
ENST00000703111.1:n.1770C>T
ENST00000703112.1:n.2536C>T
ENST00000703113.1:c.*1176C>T	ENSP00000515178.1:n.*1176C>T
ENST00000703114.1:c.*412C>T	ENSP00000515179.1:n.*412C>T
ENST00000703115.1:c.876C>T	ENSP00000515180.1:n.876C>T
ENST00000323786.10:c.1763C>T MANE Select	ENSP00000315775.5:p.Ala588Val
ENST00000564415.6:c.*1543C>T	ENSP00000456653.2:n.*1543C>T
ENST00000674443.1:c.1688C>T	ENSP00000501405.1:p.Ala563Val
ENST00000323786.9:c.1763C>T	ENSP00000315775.5:p.Ala588Val
ENST00000393612.8:c.1700C>T	ENSP00000377236.5:p.Ala567Val
ENST00000482252.5:c.1910C>T	ENSP00000432802.1:n.1910C>T
ENST00000526700.5:n.939C>T
ENST00000530314.5:n.2442C>T
ENST00000564315.1:n.223C>T
ENST00000564415.5:c.*1543C>T	ENSP00000456653.1:n.*1543C>T
NM_001195139.1:c.1700C>T	NP_001182068.1:p.Ala567Val
NM_015386.2:c.1763C>T	NP_056201.2:p.Ala588Val
XM_011522981.1:c.1337C>T	XP_011521283.1:p.Ala446Val
XR_933266.1:n.1709C>T
XR_933267.1:n.1709C>T
XM_011522981.3:c.1337C>T	XP_011521283.1:p.Ala446Val
XM_024450224.1:c.782C>T	XP_024305992.1:p.Ala261Val
XR_001751889.1:n.1646C>T
XR_933266.2:n.1709C>T
NM_015386.3:c.1763C>T MANE Select	NP_056201.2:p.Ala588Val
NM_001195139.2:c.1688C>T	NP_001182068.2:p.Ala563Val
NM_001365426.1:c.1337C>T	NP_001352355.1:p.Ala446Val
NR_158212.1:n.1722C>T