Canonical Allele Identifier: CA396580669

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517800A>T (hg19) ; chr16:g.70483897A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483897A>T , CM000678.2:g.70483897A>T	GRCh38
NC_000016.9:g.70517800A>T , CM000678.1:g.70517800A>T	GRCh37
NC_000016.8:g.69075301A>T	NCBI36
NG_027529.1:g.44658T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1859T>A	ENSP00000461912.2:n.*1859T>A
ENST00000703106.1:c.1828T>A	ENSP00000515173.1:n.1828T>A
ENST00000703107.1:c.*1712T>A	ENSP00000515174.1:n.*1712T>A
ENST00000703108.1:c.*231T>A	ENSP00000515175.1:n.*231T>A
ENST00000703109.1:c.1816T>A	ENSP00000515176.1:p.Ser606Thr
ENST00000703110.1:c.*1285T>A	ENSP00000515177.1:n.*1285T>A
ENST00000703111.1:n.1790T>A
ENST00000703112.1:n.2556T>A
ENST00000703113.1:c.*1196T>A	ENSP00000515178.1:n.*1196T>A
ENST00000703114.1:c.*432T>A	ENSP00000515179.1:n.*432T>A
ENST00000703115.1:c.896T>A	ENSP00000515180.1:n.896T>A
ENST00000323786.10:c.1783T>A MANE Select	ENSP00000315775.5:p.Ser595Thr
ENST00000564415.6:c.*1563T>A	ENSP00000456653.2:n.*1563T>A
ENST00000674443.1:c.1708T>A	ENSP00000501405.1:p.Ser570Thr
ENST00000323786.9:c.1783T>A	ENSP00000315775.5:p.Ser595Thr
ENST00000393612.8:c.1720T>A	ENSP00000377236.5:p.Ser574Thr
ENST00000482252.5:c.1930T>A	ENSP00000432802.1:n.1930T>A
ENST00000526700.5:n.959T>A
ENST00000530314.5:n.2462T>A
ENST00000564315.1:n.243T>A
ENST00000564415.5:c.*1563T>A	ENSP00000456653.1:n.*1563T>A
NM_001195139.1:c.1720T>A	NP_001182068.1:p.Ser574Thr
NM_015386.2:c.1783T>A	NP_056201.2:p.Ser595Thr
XM_011522981.1:c.1357T>A	XP_011521283.1:p.Ser453Thr
XR_933266.1:n.1729T>A
XR_933267.1:n.1729T>A
XM_011522981.3:c.1357T>A	XP_011521283.1:p.Ser453Thr
XM_024450224.1:c.802T>A	XP_024305992.1:p.Ser268Thr
XR_001751889.1:n.1666T>A
XR_933266.2:n.1729T>A
NM_015386.3:c.1783T>A MANE Select	NP_056201.2:p.Ser595Thr
NM_001195139.2:c.1708T>A	NP_001182068.2:p.Ser570Thr
NM_001365426.1:c.1357T>A	NP_001352355.1:p.Ser453Thr
NR_158212.1:n.1742T>A