Canonical Allele Identifier: CA396580682

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517806A>G (hg19) ; chr16:g.70483903A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483903A>G , CM000678.2:g.70483903A>G	GRCh38
NC_000016.9:g.70517806A>G , CM000678.1:g.70517806A>G	GRCh37
NC_000016.8:g.69075307A>G	NCBI36
NG_027529.1:g.44652T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1853T>C	ENSP00000461912.2:n.*1853T>C
ENST00000703106.1:c.1822T>C	ENSP00000515173.1:n.1822T>C
ENST00000703107.1:c.*1706T>C	ENSP00000515174.1:n.*1706T>C
ENST00000703108.1:c.*225T>C	ENSP00000515175.1:n.*225T>C
ENST00000703109.1:c.1810T>C	ENSP00000515176.1:p.Cys604Arg
ENST00000703110.1:c.*1279T>C	ENSP00000515177.1:n.*1279T>C
ENST00000703111.1:n.1784T>C
ENST00000703112.1:n.2550T>C
ENST00000703113.1:c.*1190T>C	ENSP00000515178.1:n.*1190T>C
ENST00000703114.1:c.*426T>C	ENSP00000515179.1:n.*426T>C
ENST00000703115.1:c.890T>C	ENSP00000515180.1:n.890T>C
ENST00000323786.10:c.1777T>C MANE Select	ENSP00000315775.5:p.Cys593Arg
ENST00000564415.6:c.*1557T>C	ENSP00000456653.2:n.*1557T>C
ENST00000674443.1:c.1702T>C	ENSP00000501405.1:p.Cys568Arg
ENST00000323786.9:c.1777T>C	ENSP00000315775.5:p.Cys593Arg
ENST00000393612.8:c.1714T>C	ENSP00000377236.5:p.Cys572Arg
ENST00000482252.5:c.1924T>C	ENSP00000432802.1:n.1924T>C
ENST00000526700.5:n.953T>C
ENST00000530314.5:n.2456T>C
ENST00000564315.1:n.237T>C
ENST00000564415.5:c.*1557T>C	ENSP00000456653.1:n.*1557T>C
NM_001195139.1:c.1714T>C	NP_001182068.1:p.Cys572Arg
NM_015386.2:c.1777T>C	NP_056201.2:p.Cys593Arg
XM_011522981.1:c.1351T>C	XP_011521283.1:p.Cys451Arg
XR_933266.1:n.1723T>C
XR_933267.1:n.1723T>C
XM_011522981.3:c.1351T>C	XP_011521283.1:p.Cys451Arg
XM_024450224.1:c.796T>C	XP_024305992.1:p.Cys266Arg
XR_001751889.1:n.1660T>C
XR_933266.2:n.1723T>C
NM_015386.3:c.1777T>C MANE Select	NP_056201.2:p.Cys593Arg
NM_001195139.2:c.1702T>C	NP_001182068.2:p.Cys568Arg
NM_001365426.1:c.1351T>C	NP_001352355.1:p.Cys451Arg
NR_158212.1:n.1736T>C