Canonical Allele Identifier: CA396580635

Gene: COG4

Linked Data

• gnomAD v4: 16-70483881-A-T
• MyVariant Identifiers: chr16:g.70517784A>T (hg19) ; chr16:g.70483881A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483881A>T , CM000678.2:g.70483881A>T	GRCh38
NC_000016.9:g.70517784A>T , CM000678.1:g.70517784A>T	GRCh37
NC_000016.8:g.69075285A>T	NCBI36
NG_027529.1:g.44674T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1875T>A	ENSP00000461912.2:n.*1875T>A
ENST00000703106.1:c.1844T>A	ENSP00000515173.1:n.1844T>A
ENST00000703107.1:c.*1728T>A	ENSP00000515174.1:n.*1728T>A
ENST00000703108.1:c.*247T>A	ENSP00000515175.1:n.*247T>A
ENST00000703109.1:c.1832T>A	ENSP00000515176.1:p.Val611Glu
ENST00000703110.1:c.*1301T>A	ENSP00000515177.1:n.*1301T>A
ENST00000703111.1:n.1806T>A
ENST00000703112.1:n.2572T>A
ENST00000703113.1:c.*1212T>A	ENSP00000515178.1:n.*1212T>A
ENST00000703114.1:c.*448T>A	ENSP00000515179.1:n.*448T>A
ENST00000703115.1:c.912T>A	ENSP00000515180.1:n.912T>A
ENST00000323786.10:c.1799T>A MANE Select	ENSP00000315775.5:p.Val600Glu
ENST00000564415.6:c.*1579T>A	ENSP00000456653.2:n.*1579T>A
ENST00000674443.1:c.1724T>A	ENSP00000501405.1:p.Val575Glu
ENST00000323786.9:c.1799T>A	ENSP00000315775.5:p.Val600Glu
ENST00000393612.8:c.1736T>A	ENSP00000377236.5:p.Val579Glu
ENST00000482252.5:c.1946T>A	ENSP00000432802.1:n.1946T>A
ENST00000526700.5:n.975T>A
ENST00000530314.5:n.2478T>A
ENST00000564315.1:n.259T>A
ENST00000564415.5:c.*1579T>A	ENSP00000456653.1:n.*1579T>A
NM_001195139.1:c.1736T>A	NP_001182068.1:p.Val579Glu
NM_015386.2:c.1799T>A	NP_056201.2:p.Val600Glu
XM_011522981.1:c.1373T>A	XP_011521283.1:p.Val458Glu
XR_933266.1:n.1745T>A
XR_933267.1:n.1745T>A
XM_011522981.3:c.1373T>A	XP_011521283.1:p.Val458Glu
XM_024450224.1:c.818T>A	XP_024305992.1:p.Val273Glu
XR_001751889.1:n.1682T>A
XR_933266.2:n.1745T>A
NM_015386.3:c.1799T>A MANE Select	NP_056201.2:p.Val600Glu
NM_001195139.2:c.1724T>A	NP_001182068.2:p.Val575Glu
NM_001365426.1:c.1373T>A	NP_001352355.1:p.Val458Glu
NR_158212.1:n.1758T>A