Canonical Allele Identifier: CA396580677

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517804G>T (hg19) ; chr16:g.70483901G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483901G>T , CM000678.2:g.70483901G>T	GRCh38
NC_000016.9:g.70517804G>T , CM000678.1:g.70517804G>T	GRCh37
NC_000016.8:g.69075305G>T	NCBI36
NG_027529.1:g.44654C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1855C>A	ENSP00000461912.2:n.*1855C>A
ENST00000703106.1:c.1824C>A	ENSP00000515173.1:n.1824C>A
ENST00000703107.1:c.*1708C>A	ENSP00000515174.1:n.*1708C>A
ENST00000703108.1:c.*227C>A	ENSP00000515175.1:n.*227C>A
ENST00000703109.1:c.1812C>A	ENSP00000515176.1:p.Cys604Ter
ENST00000703110.1:c.*1281C>A	ENSP00000515177.1:n.*1281C>A
ENST00000703111.1:n.1786C>A
ENST00000703112.1:n.2552C>A
ENST00000703113.1:c.*1192C>A	ENSP00000515178.1:n.*1192C>A
ENST00000703114.1:c.*428C>A	ENSP00000515179.1:n.*428C>A
ENST00000703115.1:c.892C>A	ENSP00000515180.1:n.892C>A
ENST00000323786.10:c.1779C>A MANE Select	ENSP00000315775.5:p.Cys593Ter
ENST00000564415.6:c.*1559C>A	ENSP00000456653.2:n.*1559C>A
ENST00000674443.1:c.1704C>A	ENSP00000501405.1:p.Cys568Ter
ENST00000323786.9:c.1779C>A	ENSP00000315775.5:p.Cys593Ter
ENST00000393612.8:c.1716C>A	ENSP00000377236.5:p.Cys572Ter
ENST00000482252.5:c.1926C>A	ENSP00000432802.1:n.1926C>A
ENST00000526700.5:n.955C>A
ENST00000530314.5:n.2458C>A
ENST00000564315.1:n.239C>A
ENST00000564415.5:c.*1559C>A	ENSP00000456653.1:n.*1559C>A
NM_001195139.1:c.1716C>A	NP_001182068.1:p.Cys572Ter
NM_015386.2:c.1779C>A	NP_056201.2:p.Cys593Ter
XM_011522981.1:c.1353C>A	XP_011521283.1:p.Cys451Ter
XR_933266.1:n.1725C>A
XR_933267.1:n.1725C>A
XM_011522981.3:c.1353C>A	XP_011521283.1:p.Cys451Ter
XM_024450224.1:c.798C>A	XP_024305992.1:p.Cys266Ter
XR_001751889.1:n.1662C>A
XR_933266.2:n.1725C>A
NM_015386.3:c.1779C>A MANE Select	NP_056201.2:p.Cys593Ter
NM_001195139.2:c.1704C>A	NP_001182068.2:p.Cys568Ter
NM_001365426.1:c.1353C>A	NP_001352355.1:p.Cys451Ter
NR_158212.1:n.1738C>A