Canonical Allele Identifier: CA396580736

Gene: COG4

Linked Data

• gnomAD v4: 16-70483926-T-C
• MyVariant Identifiers: chr16:g.70517829T>C (hg19) ; chr16:g.70483926T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483926T>C , CM000678.2:g.70483926T>C	GRCh38
NC_000016.9:g.70517829T>C , CM000678.1:g.70517829T>C	GRCh37
NC_000016.8:g.69075330T>C	NCBI36
NG_027529.1:g.44629A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1830A>G	ENSP00000461912.2:n.*1830A>G
ENST00000703106.1:c.1799A>G	ENSP00000515173.1:n.1799A>G
ENST00000703107.1:c.*1683A>G	ENSP00000515174.1:n.*1683A>G
ENST00000703108.1:c.*202A>G	ENSP00000515175.1:n.*202A>G
ENST00000703109.1:c.1787A>G	ENSP00000515176.1:p.Gln596Arg
ENST00000703110.1:c.*1256A>G	ENSP00000515177.1:n.*1256A>G
ENST00000703111.1:n.1761A>G
ENST00000703112.1:n.2527A>G
ENST00000703113.1:c.*1167A>G	ENSP00000515178.1:n.*1167A>G
ENST00000703114.1:c.*403A>G	ENSP00000515179.1:n.*403A>G
ENST00000703115.1:c.867A>G	ENSP00000515180.1:n.867A>G
ENST00000323786.10:c.1754A>G MANE Select	ENSP00000315775.5:p.Gln585Arg
ENST00000564415.6:c.*1534A>G	ENSP00000456653.2:n.*1534A>G
ENST00000674443.1:c.1679A>G	ENSP00000501405.1:p.Gln560Arg
ENST00000323786.9:c.1754A>G	ENSP00000315775.5:p.Gln585Arg
ENST00000393612.8:c.1691A>G	ENSP00000377236.5:p.Gln564Arg
ENST00000482252.5:c.1901A>G	ENSP00000432802.1:n.1901A>G
ENST00000526700.5:n.930A>G
ENST00000530314.5:n.2433A>G
ENST00000564315.1:n.214A>G
ENST00000564415.5:c.*1534A>G	ENSP00000456653.1:n.*1534A>G
NM_001195139.1:c.1691A>G	NP_001182068.1:p.Gln564Arg
NM_015386.2:c.1754A>G	NP_056201.2:p.Gln585Arg
XM_011522981.1:c.1328A>G	XP_011521283.1:p.Gln443Arg
XR_933266.1:n.1700A>G
XR_933267.1:n.1700A>G
XM_011522981.3:c.1328A>G	XP_011521283.1:p.Gln443Arg
XM_024450224.1:c.773A>G	XP_024305992.1:p.Gln258Arg
XR_001751889.1:n.1637A>G
XR_933266.2:n.1700A>G
NM_015386.3:c.1754A>G MANE Select	NP_056201.2:p.Gln585Arg
NM_001195139.2:c.1679A>G	NP_001182068.2:p.Gln560Arg
NM_001365426.1:c.1328A>G	NP_001352355.1:p.Gln443Arg
NR_158212.1:n.1713A>G