Canonical Allele Identifier: CA396580813

Gene: COG4

Linked Data

• gnomAD v4: 16-70483962-C-T
• MyVariant Identifiers: chr16:g.70517865C>T (hg19) ; chr16:g.70483962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483962C>T , CM000678.2:g.70483962C>T	GRCh38
NC_000016.9:g.70517865C>T , CM000678.1:g.70517865C>T	GRCh37
NC_000016.8:g.69075366C>T	NCBI36
NG_027529.1:g.44593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1794G>A	ENSP00000461912.2:n.*1794G>A
ENST00000703106.1:c.1763G>A	ENSP00000515173.1:n.1763G>A
ENST00000703107.1:c.*1647G>A	ENSP00000515174.1:n.*1647G>A
ENST00000703108.1:c.*166G>A	ENSP00000515175.1:n.*166G>A
ENST00000703109.1:c.1751G>A	ENSP00000515176.1:p.Cys584Tyr
ENST00000703110.1:c.*1220G>A	ENSP00000515177.1:n.*1220G>A
ENST00000703111.1:n.1725G>A
ENST00000703112.1:n.2491G>A
ENST00000703113.1:c.*1131G>A	ENSP00000515178.1:n.*1131G>A
ENST00000703114.1:c.*367G>A	ENSP00000515179.1:n.*367G>A
ENST00000703115.1:c.831G>A	ENSP00000515180.1:n.831G>A
ENST00000323786.10:c.1718G>A MANE Select	ENSP00000315775.5:p.Cys573Tyr
ENST00000564415.6:c.*1498G>A	ENSP00000456653.2:n.*1498G>A
ENST00000674443.1:c.1643G>A	ENSP00000501405.1:p.Cys548Tyr
ENST00000323786.9:c.1718G>A	ENSP00000315775.5:p.Cys573Tyr
ENST00000393612.8:c.1655G>A	ENSP00000377236.5:p.Cys552Tyr
ENST00000482252.5:c.1865G>A	ENSP00000432802.1:n.1865G>A
ENST00000526700.5:n.894G>A
ENST00000530314.5:n.2397G>A
ENST00000564315.1:n.178G>A
ENST00000564415.5:c.*1498G>A	ENSP00000456653.1:n.*1498G>A
NM_001195139.1:c.1655G>A	NP_001182068.1:p.Cys552Tyr
NM_015386.2:c.1718G>A	NP_056201.2:p.Cys573Tyr
XM_011522981.1:c.1292G>A	XP_011521283.1:p.Cys431Tyr
XR_933266.1:n.1664G>A
XR_933267.1:n.1664G>A
XM_011522981.3:c.1292G>A	XP_011521283.1:p.Cys431Tyr
XM_024450224.1:c.737G>A	XP_024305992.1:p.Cys246Tyr
XR_001751889.1:n.1601G>A
XR_933266.2:n.1664G>A
NM_015386.3:c.1718G>A MANE Select	NP_056201.2:p.Cys573Tyr
NM_001195139.2:c.1643G>A	NP_001182068.2:p.Cys548Tyr
NM_001365426.1:c.1292G>A	NP_001352355.1:p.Cys431Tyr
NR_158212.1:n.1677G>A