Canonical Allele Identifier: CA396578245

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515332A>T (hg19) ; chr16:g.70481429A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481429A>T , CM000678.2:g.70481429A>T	GRCh38
NC_000016.9:g.70515332A>T , CM000678.1:g.70515332A>T	GRCh37
NC_000016.8:g.69072833A>T	NCBI36
NG_027529.1:g.47126T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2241T>A	ENSP00000461912.2:n.*2241T>A
ENST00000703106.1:c.2210T>A	ENSP00000515173.1:n.2210T>A
ENST00000703107.1:c.*2094T>A	ENSP00000515174.1:n.*2094T>A
ENST00000703108.1:c.*613T>A	ENSP00000515175.1:n.*613T>A
ENST00000703109.1:c.2198T>A	ENSP00000515176.1:p.Val733Glu
ENST00000703110.1:c.*1667T>A	ENSP00000515177.1:n.*1667T>A
ENST00000703111.1:n.2448T>A
ENST00000703112.1:n.3109T>A
ENST00000703113.1:c.*1578T>A	ENSP00000515178.1:n.*1578T>A
ENST00000703114.1:c.*814T>A	ENSP00000515179.1:n.*814T>A
ENST00000703115.1:c.1278T>A	ENSP00000515180.1:n.1278T>A
ENST00000323786.10:c.2165T>A MANE Select	ENSP00000315775.5:p.Val722Glu
ENST00000564415.6:c.*1945T>A	ENSP00000456653.2:n.*1945T>A
ENST00000674443.1:c.2090T>A	ENSP00000501405.1:p.Val697Glu
ENST00000323786.9:c.2165T>A	ENSP00000315775.5:p.Val722Glu
ENST00000393612.8:c.2102T>A	ENSP00000377236.5:p.Val701Glu
ENST00000482252.5:c.2312T>A	ENSP00000432802.1:n.2312T>A
ENST00000526700.5:n.1341T>A
ENST00000530314.5:n.2844T>A
ENST00000564415.5:c.*1945T>A	ENSP00000456653.1:n.*1945T>A
ENST00000565715.1:c.227T>A	ENSP00000455693.1:p.Val76Glu
NM_001195139.1:c.2102T>A	NP_001182068.1:p.Val701Glu
NM_015386.2:c.2165T>A	NP_056201.2:p.Val722Glu
XM_011522981.1:c.1739T>A	XP_011521283.1:p.Val580Glu
XM_011522981.3:c.1739T>A	XP_011521283.1:p.Val580Glu
XM_024450224.1:c.1184T>A	XP_024305992.1:p.Val395Glu
XR_933266.2:n.2111T>A
NM_015386.3:c.2165T>A MANE Select	NP_056201.2:p.Val722Glu
NM_001195139.2:c.2090T>A	NP_001182068.2:p.Val697Glu
NM_001365426.1:c.1739T>A	NP_001352355.1:p.Val580Glu
NR_158212.1:n.2124T>A