Canonical Allele Identifier: CA8144202

Gene: COG4

Linked Data

• dbSNP Id: rs752030402
• ExAC: 16:70517822 C / T
• gnomAD v2: 16-70517822-C-T
• gnomAD v3: 16-70483919-C-T
• gnomAD v4: 16-70483919-C-T
• MyVariant Identifiers: chr16:g.70517822C>T (hg19) ; chr16:g.70483919C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483919C>T , CM000678.2:g.70483919C>T	GRCh38
NC_000016.9:g.70517822C>T , CM000678.1:g.70517822C>T	GRCh37
NC_000016.8:g.69075323C>T	NCBI36
NG_027529.1:g.44636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1837G>A	ENSP00000461912.2:n.*1837G>A
ENST00000703106.1:c.1806G>A	ENSP00000515173.1:n.1806G>A
ENST00000703107.1:c.*1690G>A	ENSP00000515174.1:n.*1690G>A
ENST00000703108.1:c.*209G>A	ENSP00000515175.1:n.*209G>A
ENST00000703109.1:c.1794G>A	ENSP00000515176.1:p.Gln598=
ENST00000703110.1:c.*1263G>A	ENSP00000515177.1:n.*1263G>A
ENST00000703111.1:n.1768G>A
ENST00000703112.1:n.2534G>A
ENST00000703113.1:c.*1174G>A	ENSP00000515178.1:n.*1174G>A
ENST00000703114.1:c.*410G>A	ENSP00000515179.1:n.*410G>A
ENST00000703115.1:c.874G>A	ENSP00000515180.1:n.874G>A
ENST00000323786.10:c.1761G>A MANE Select	ENSP00000315775.5:p.Gln587=
ENST00000564415.6:c.*1541G>A	ENSP00000456653.2:n.*1541G>A
ENST00000674443.1:c.1686G>A	ENSP00000501405.1:p.Gln562=
ENST00000323786.9:c.1761G>A	ENSP00000315775.5:p.Gln587=
ENST00000393612.8:c.1698G>A	ENSP00000377236.5:p.Gln566=
ENST00000482252.5:c.1908G>A	ENSP00000432802.1:n.1908G>A
ENST00000526700.5:n.937G>A
ENST00000530314.5:n.2440G>A
ENST00000564315.1:n.221G>A
ENST00000564415.5:c.*1541G>A	ENSP00000456653.1:n.*1541G>A
NM_001195139.1:c.1698G>A	NP_001182068.1:p.Gln566=
NM_015386.2:c.1761G>A	NP_056201.2:p.Gln587=
XM_011522981.1:c.1335G>A	XP_011521283.1:p.Gln445=
XR_933266.1:n.1707G>A
XR_933267.1:n.1707G>A
XM_011522981.3:c.1335G>A	XP_011521283.1:p.Gln445=
XM_024450224.1:c.780G>A	XP_024305992.1:p.Gln260=
XR_001751889.1:n.1644G>A
XR_933266.2:n.1707G>A
NM_015386.3:c.1761G>A MANE Select	NP_056201.2:p.Gln587=
NM_001195139.2:c.1686G>A	NP_001182068.2:p.Gln562=
NM_001365426.1:c.1335G>A	NP_001352355.1:p.Gln445=
NR_158212.1:n.1720G>A