Canonical Allele Identifier: CA396580774

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517847T>C (hg19) ; chr16:g.70483944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483944T>C , CM000678.2:g.70483944T>C	GRCh38
NC_000016.9:g.70517847T>C , CM000678.1:g.70517847T>C	GRCh37
NC_000016.8:g.69075348T>C	NCBI36
NG_027529.1:g.44611A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1812A>G	ENSP00000461912.2:n.*1812A>G
ENST00000703106.1:c.1781A>G	ENSP00000515173.1:n.1781A>G
ENST00000703107.1:c.*1665A>G	ENSP00000515174.1:n.*1665A>G
ENST00000703108.1:c.*184A>G	ENSP00000515175.1:n.*184A>G
ENST00000703109.1:c.1769A>G	ENSP00000515176.1:p.Gln590Arg
ENST00000703110.1:c.*1238A>G	ENSP00000515177.1:n.*1238A>G
ENST00000703111.1:n.1743A>G
ENST00000703112.1:n.2509A>G
ENST00000703113.1:c.*1149A>G	ENSP00000515178.1:n.*1149A>G
ENST00000703114.1:c.*385A>G	ENSP00000515179.1:n.*385A>G
ENST00000703115.1:c.849A>G	ENSP00000515180.1:n.849A>G
ENST00000323786.10:c.1736A>G MANE Select	ENSP00000315775.5:p.Gln579Arg
ENST00000564415.6:c.*1516A>G	ENSP00000456653.2:n.*1516A>G
ENST00000674443.1:c.1661A>G	ENSP00000501405.1:p.Gln554Arg
ENST00000323786.9:c.1736A>G	ENSP00000315775.5:p.Gln579Arg
ENST00000393612.8:c.1673A>G	ENSP00000377236.5:p.Gln558Arg
ENST00000482252.5:c.1883A>G	ENSP00000432802.1:n.1883A>G
ENST00000526700.5:n.912A>G
ENST00000530314.5:n.2415A>G
ENST00000564315.1:n.196A>G
ENST00000564415.5:c.*1516A>G	ENSP00000456653.1:n.*1516A>G
NM_001195139.1:c.1673A>G	NP_001182068.1:p.Gln558Arg
NM_015386.2:c.1736A>G	NP_056201.2:p.Gln579Arg
XM_011522981.1:c.1310A>G	XP_011521283.1:p.Gln437Arg
XR_933266.1:n.1682A>G
XR_933267.1:n.1682A>G
XM_011522981.3:c.1310A>G	XP_011521283.1:p.Gln437Arg
XM_024450224.1:c.755A>G	XP_024305992.1:p.Gln252Arg
XR_001751889.1:n.1619A>G
XR_933266.2:n.1682A>G
NM_015386.3:c.1736A>G MANE Select	NP_056201.2:p.Gln579Arg
NM_001195139.2:c.1661A>G	NP_001182068.2:p.Gln554Arg
NM_001365426.1:c.1310A>G	NP_001352355.1:p.Gln437Arg
NR_158212.1:n.1695A>G