Canonical Allele Identifier: CA396578140

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515316G>C (hg19) ; chr16:g.70481413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481413G>C , CM000678.2:g.70481413G>C	GRCh38
NC_000016.9:g.70515316G>C , CM000678.1:g.70515316G>C	GRCh37
NC_000016.8:g.69072817G>C	NCBI36
NG_027529.1:g.47142C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2257C>G	ENSP00000461912.2:n.*2257C>G
ENST00000703106.1:c.2226C>G	ENSP00000515173.1:n.2226C>G
ENST00000703107.1:c.*2110C>G	ENSP00000515174.1:n.*2110C>G
ENST00000703108.1:c.*629C>G	ENSP00000515175.1:n.*629C>G
ENST00000703109.1:c.2214C>G	ENSP00000515176.1:p.Ile738Met
ENST00000703110.1:c.*1683C>G	ENSP00000515177.1:n.*1683C>G
ENST00000703111.1:n.2464C>G
ENST00000703112.1:n.3125C>G
ENST00000703113.1:c.*1594C>G	ENSP00000515178.1:n.*1594C>G
ENST00000703114.1:c.*830C>G	ENSP00000515179.1:n.*830C>G
ENST00000703115.1:c.1294C>G	ENSP00000515180.1:n.1294C>G
ENST00000323786.10:c.2181C>G MANE Select	ENSP00000315775.5:p.Ile727Met
ENST00000564415.6:c.*1961C>G	ENSP00000456653.2:n.*1961C>G
ENST00000674443.1:c.2106C>G	ENSP00000501405.1:p.Ile702Met
ENST00000323786.9:c.2181C>G	ENSP00000315775.5:p.Ile727Met
ENST00000393612.8:c.2118C>G	ENSP00000377236.5:p.Ile706Met
ENST00000482252.5:c.2328C>G	ENSP00000432802.1:n.2328C>G
ENST00000526700.5:n.1357C>G
ENST00000530314.5:n.2860C>G
ENST00000564415.5:c.*1961C>G	ENSP00000456653.1:n.*1961C>G
ENST00000565715.1:c.243C>G	ENSP00000455693.1:p.Ile81Met
NM_001195139.1:c.2118C>G	NP_001182068.1:p.Ile706Met
NM_015386.2:c.2181C>G	NP_056201.2:p.Ile727Met
XM_011522981.1:c.1755C>G	XP_011521283.1:p.Ile585Met
XM_011522981.3:c.1755C>G	XP_011521283.1:p.Ile585Met
XM_024450224.1:c.1200C>G	XP_024305992.1:p.Ile400Met
XR_933266.2:n.2127C>G
NM_015386.3:c.2181C>G MANE Select	NP_056201.2:p.Ile727Met
NM_001195139.2:c.2106C>G	NP_001182068.2:p.Ile702Met
NM_001365426.1:c.1755C>G	NP_001352355.1:p.Ile585Met
NR_158212.1:n.2140C>G