Canonical Allele Identifier: CA396580691

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517809T>G (hg19) ; chr16:g.70483906T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483906T>G , CM000678.2:g.70483906T>G	GRCh38
NC_000016.9:g.70517809T>G , CM000678.1:g.70517809T>G	GRCh37
NC_000016.8:g.69075310T>G	NCBI36
NG_027529.1:g.44649A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1850A>C	ENSP00000461912.2:n.*1850A>C
ENST00000703106.1:c.1819A>C	ENSP00000515173.1:n.1819A>C
ENST00000703107.1:c.*1703A>C	ENSP00000515174.1:n.*1703A>C
ENST00000703108.1:c.*222A>C	ENSP00000515175.1:n.*222A>C
ENST00000703109.1:c.1807A>C	ENSP00000515176.1:p.Ser603Arg
ENST00000703110.1:c.*1276A>C	ENSP00000515177.1:n.*1276A>C
ENST00000703111.1:n.1781A>C
ENST00000703112.1:n.2547A>C
ENST00000703113.1:c.*1187A>C	ENSP00000515178.1:n.*1187A>C
ENST00000703114.1:c.*423A>C	ENSP00000515179.1:n.*423A>C
ENST00000703115.1:c.887A>C	ENSP00000515180.1:n.887A>C
ENST00000323786.10:c.1774A>C MANE Select	ENSP00000315775.5:p.Ser592Arg
ENST00000564415.6:c.*1554A>C	ENSP00000456653.2:n.*1554A>C
ENST00000674443.1:c.1699A>C	ENSP00000501405.1:p.Ser567Arg
ENST00000323786.9:c.1774A>C	ENSP00000315775.5:p.Ser592Arg
ENST00000393612.8:c.1711A>C	ENSP00000377236.5:p.Ser571Arg
ENST00000482252.5:c.1921A>C	ENSP00000432802.1:n.1921A>C
ENST00000526700.5:n.950A>C
ENST00000530314.5:n.2453A>C
ENST00000564315.1:n.234A>C
ENST00000564415.5:c.*1554A>C	ENSP00000456653.1:n.*1554A>C
NM_001195139.1:c.1711A>C	NP_001182068.1:p.Ser571Arg
NM_015386.2:c.1774A>C	NP_056201.2:p.Ser592Arg
XM_011522981.1:c.1348A>C	XP_011521283.1:p.Ser450Arg
XR_933266.1:n.1720A>C
XR_933267.1:n.1720A>C
XM_011522981.3:c.1348A>C	XP_011521283.1:p.Ser450Arg
XM_024450224.1:c.793A>C	XP_024305992.1:p.Ser265Arg
XR_001751889.1:n.1657A>C
XR_933266.2:n.1720A>C
NM_015386.3:c.1774A>C MANE Select	NP_056201.2:p.Ser592Arg
NM_001195139.2:c.1699A>C	NP_001182068.2:p.Ser567Arg
NM_001365426.1:c.1348A>C	NP_001352355.1:p.Ser450Arg
NR_158212.1:n.1733A>C