Canonical Allele Identifier: CA396580811

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517864G>C (hg19) ; chr16:g.70483961G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483961G>C , CM000678.2:g.70483961G>C	GRCh38
NC_000016.9:g.70517864G>C , CM000678.1:g.70517864G>C	GRCh37
NC_000016.8:g.69075365G>C	NCBI36
NG_027529.1:g.44594C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1795C>G	ENSP00000461912.2:n.*1795C>G
ENST00000703106.1:c.1764C>G	ENSP00000515173.1:n.1764C>G
ENST00000703107.1:c.*1648C>G	ENSP00000515174.1:n.*1648C>G
ENST00000703108.1:c.*167C>G	ENSP00000515175.1:n.*167C>G
ENST00000703109.1:c.1752C>G	ENSP00000515176.1:p.Cys584Trp
ENST00000703110.1:c.*1221C>G	ENSP00000515177.1:n.*1221C>G
ENST00000703111.1:n.1726C>G
ENST00000703112.1:n.2492C>G
ENST00000703113.1:c.*1132C>G	ENSP00000515178.1:n.*1132C>G
ENST00000703114.1:c.*368C>G	ENSP00000515179.1:n.*368C>G
ENST00000703115.1:c.832C>G	ENSP00000515180.1:n.832C>G
ENST00000323786.10:c.1719C>G MANE Select	ENSP00000315775.5:p.Cys573Trp
ENST00000564415.6:c.*1499C>G	ENSP00000456653.2:n.*1499C>G
ENST00000674443.1:c.1644C>G	ENSP00000501405.1:p.Cys548Trp
ENST00000323786.9:c.1719C>G	ENSP00000315775.5:p.Cys573Trp
ENST00000393612.8:c.1656C>G	ENSP00000377236.5:p.Cys552Trp
ENST00000482252.5:c.1866C>G	ENSP00000432802.1:n.1866C>G
ENST00000526700.5:n.895C>G
ENST00000530314.5:n.2398C>G
ENST00000564315.1:n.179C>G
ENST00000564415.5:c.*1499C>G	ENSP00000456653.1:n.*1499C>G
NM_001195139.1:c.1656C>G	NP_001182068.1:p.Cys552Trp
NM_015386.2:c.1719C>G	NP_056201.2:p.Cys573Trp
XM_011522981.1:c.1293C>G	XP_011521283.1:p.Cys431Trp
XR_933266.1:n.1665C>G
XR_933267.1:n.1665C>G
XM_011522981.3:c.1293C>G	XP_011521283.1:p.Cys431Trp
XM_024450224.1:c.738C>G	XP_024305992.1:p.Cys246Trp
XR_001751889.1:n.1602C>G
XR_933266.2:n.1665C>G
NM_015386.3:c.1719C>G MANE Select	NP_056201.2:p.Cys573Trp
NM_001195139.2:c.1644C>G	NP_001182068.2:p.Cys548Trp
NM_001365426.1:c.1293C>G	NP_001352355.1:p.Cys431Trp
NR_158212.1:n.1678C>G