Canonical Allele Identifier: CA396580603

Gene: COG4

Linked Data

• dbSNP Id: rs1276711781
• MyVariant Identifiers: chr16:g.70517770G>C (hg19) ; chr16:g.70483867G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483867G>C , CM000678.2:g.70483867G>C	GRCh38
NC_000016.9:g.70517770G>C , CM000678.1:g.70517770G>C	GRCh37
NC_000016.8:g.69075271G>C	NCBI36
NG_027529.1:g.44688C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1889C>G	ENSP00000461912.2:n.*1889C>G
ENST00000703106.1:c.1858C>G	ENSP00000515173.1:n.1858C>G
ENST00000703107.1:c.*1742C>G	ENSP00000515174.1:n.*1742C>G
ENST00000703108.1:c.*261C>G	ENSP00000515175.1:n.*261C>G
ENST00000703109.1:c.1846C>G	ENSP00000515176.1:p.Arg616Gly
ENST00000703110.1:c.*1315C>G	ENSP00000515177.1:n.*1315C>G
ENST00000703111.1:n.1820C>G
ENST00000703112.1:n.2586C>G
ENST00000703113.1:c.*1226C>G	ENSP00000515178.1:n.*1226C>G
ENST00000703114.1:c.*462C>G	ENSP00000515179.1:n.*462C>G
ENST00000703115.1:c.926C>G	ENSP00000515180.1:n.926C>G
ENST00000323786.10:c.1813C>G MANE Select	ENSP00000315775.5:p.Arg605Gly
ENST00000564415.6:c.*1593C>G	ENSP00000456653.2:n.*1593C>G
ENST00000674443.1:c.1738C>G	ENSP00000501405.1:p.Arg580Gly
ENST00000323786.9:c.1813C>G	ENSP00000315775.5:p.Arg605Gly
ENST00000393612.8:c.1750C>G	ENSP00000377236.5:p.Arg584Gly
ENST00000482252.5:c.1960C>G	ENSP00000432802.1:n.1960C>G
ENST00000526700.5:n.989C>G
ENST00000530314.5:n.2492C>G
ENST00000564315.1:n.273C>G
ENST00000564415.5:c.*1593C>G	ENSP00000456653.1:n.*1593C>G
NM_001195139.1:c.1750C>G	NP_001182068.1:p.Arg584Gly
NM_015386.2:c.1813C>G	NP_056201.2:p.Arg605Gly
XM_011522981.1:c.1387C>G	XP_011521283.1:p.Arg463Gly
XR_933266.1:n.1759C>G
XR_933267.1:n.1759C>G
XM_011522981.3:c.1387C>G	XP_011521283.1:p.Arg463Gly
XM_024450224.1:c.832C>G	XP_024305992.1:p.Arg278Gly
XR_001751889.1:n.1696C>G
XR_933266.2:n.1759C>G
NM_015386.3:c.1813C>G MANE Select	NP_056201.2:p.Arg605Gly
NM_001195139.2:c.1738C>G	NP_001182068.2:p.Arg580Gly
NM_001365426.1:c.1387C>G	NP_001352355.1:p.Arg463Gly
NR_158212.1:n.1772C>G