Canonical Allele Identifier: CA396580743

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517832T>C (hg19) ; chr16:g.70483929T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483929T>C , CM000678.2:g.70483929T>C	GRCh38
NC_000016.9:g.70517832T>C , CM000678.1:g.70517832T>C	GRCh37
NC_000016.8:g.69075333T>C	NCBI36
NG_027529.1:g.44626A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1827A>G	ENSP00000461912.2:n.*1827A>G
ENST00000703106.1:c.1796A>G	ENSP00000515173.1:n.1796A>G
ENST00000703107.1:c.*1680A>G	ENSP00000515174.1:n.*1680A>G
ENST00000703108.1:c.*199A>G	ENSP00000515175.1:n.*199A>G
ENST00000703109.1:c.1784A>G	ENSP00000515176.1:p.Glu595Gly
ENST00000703110.1:c.*1253A>G	ENSP00000515177.1:n.*1253A>G
ENST00000703111.1:n.1758A>G
ENST00000703112.1:n.2524A>G
ENST00000703113.1:c.*1164A>G	ENSP00000515178.1:n.*1164A>G
ENST00000703114.1:c.*400A>G	ENSP00000515179.1:n.*400A>G
ENST00000703115.1:c.864A>G	ENSP00000515180.1:n.864A>G
ENST00000323786.10:c.1751A>G MANE Select	ENSP00000315775.5:p.Glu584Gly
ENST00000564415.6:c.*1531A>G	ENSP00000456653.2:n.*1531A>G
ENST00000674443.1:c.1676A>G	ENSP00000501405.1:p.Glu559Gly
ENST00000323786.9:c.1751A>G	ENSP00000315775.5:p.Glu584Gly
ENST00000393612.8:c.1688A>G	ENSP00000377236.5:p.Glu563Gly
ENST00000482252.5:c.1898A>G	ENSP00000432802.1:n.1898A>G
ENST00000526700.5:n.927A>G
ENST00000530314.5:n.2430A>G
ENST00000564315.1:n.211A>G
ENST00000564415.5:c.*1531A>G	ENSP00000456653.1:n.*1531A>G
NM_001195139.1:c.1688A>G	NP_001182068.1:p.Glu563Gly
NM_015386.2:c.1751A>G	NP_056201.2:p.Glu584Gly
XM_011522981.1:c.1325A>G	XP_011521283.1:p.Glu442Gly
XR_933266.1:n.1697A>G
XR_933267.1:n.1697A>G
XM_011522981.3:c.1325A>G	XP_011521283.1:p.Glu442Gly
XM_024450224.1:c.770A>G	XP_024305992.1:p.Glu257Gly
XR_001751889.1:n.1634A>G
XR_933266.2:n.1697A>G
NM_015386.3:c.1751A>G MANE Select	NP_056201.2:p.Glu584Gly
NM_001195139.2:c.1676A>G	NP_001182068.2:p.Glu559Gly
NM_001365426.1:c.1325A>G	NP_001352355.1:p.Glu442Gly
NR_158212.1:n.1710A>G