Canonical Allele Identifier: CA496227839

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515385A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481482A>C , CM000678.2:g.70481482A>C	GRCh38
NC_000016.9:g.70515385A>C , CM000678.1:g.70515385A>C	GRCh37
NC_000016.8:g.69072886A>C	NCBI36
NG_027529.1:g.47073T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2188T>G	ENSP00000461912.2:n.*2188T>G
ENST00000703106.1:c.2157T>G	ENSP00000515173.1:n.2157T>G
ENST00000703107.1:c.*2041T>G	ENSP00000515174.1:n.*2041T>G
ENST00000703108.1:c.*560T>G	ENSP00000515175.1:n.*560T>G
ENST00000703109.1:c.2145T>G	ENSP00000515176.1:p.Gly715=
ENST00000703110.1:c.*1614T>G	ENSP00000515177.1:n.*1614T>G
ENST00000703111.1:n.2395T>G
ENST00000703112.1:n.3056T>G
ENST00000703113.1:c.*1525T>G	ENSP00000515178.1:n.*1525T>G
ENST00000703114.1:c.*761T>G	ENSP00000515179.1:n.*761T>G
ENST00000703115.1:c.1225T>G	ENSP00000515180.1:n.1225T>G
ENST00000323786.10:c.2112T>G MANE Select	ENSP00000315775.5:p.Gly704=
ENST00000564415.6:c.*1892T>G	ENSP00000456653.2:n.*1892T>G
ENST00000674443.1:c.2037T>G	ENSP00000501405.1:p.Gly679=
ENST00000323786.9:c.2112T>G	ENSP00000315775.5:p.Gly704=
ENST00000393612.8:c.2049T>G	ENSP00000377236.5:p.Gly683=
ENST00000482252.5:c.2259T>G	ENSP00000432802.1:n.2259T>G
ENST00000526700.5:n.1288T>G
ENST00000530314.5:n.2791T>G
ENST00000564415.5:c.*1892T>G	ENSP00000456653.1:n.*1892T>G
ENST00000565715.1:c.174T>G	ENSP00000455693.1:p.Gly58=
NM_001195139.1:c.2049T>G	NP_001182068.1:p.Gly683=
NM_015386.2:c.2112T>G	NP_056201.2:p.Gly704=
XM_011522981.1:c.1686T>G	XP_011521283.1:p.Gly562=
XM_011522981.3:c.1686T>G	XP_011521283.1:p.Gly562=
XM_024450224.1:c.1131T>G	XP_024305992.1:p.Gly377=
XR_001751889.1:n.1995T>G
XR_933266.2:n.2058T>G
NM_015386.3:c.2112T>G MANE Select	NP_056201.2:p.Gly704=
NM_001195139.2:c.2037T>G	NP_001182068.2:p.Gly679=
NM_001365426.1:c.1686T>G	NP_001352355.1:p.Gly562=
NR_158212.1:n.2071T>G