Canonical Allele Identifier: CA396580820

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517867G>T (hg19) ; chr16:g.70483964G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483964G>T , CM000678.2:g.70483964G>T	GRCh38
NC_000016.9:g.70517867G>T , CM000678.1:g.70517867G>T	GRCh37
NC_000016.8:g.69075368G>T	NCBI36
NG_027529.1:g.44591C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1792C>A	ENSP00000461912.2:n.*1792C>A
ENST00000703106.1:c.1761C>A	ENSP00000515173.1:n.1761C>A
ENST00000703107.1:c.*1645C>A	ENSP00000515174.1:n.*1645C>A
ENST00000703108.1:c.*164C>A	ENSP00000515175.1:n.*164C>A
ENST00000703109.1:c.1749C>A	ENSP00000515176.1:p.Asp583Glu
ENST00000703110.1:c.*1218C>A	ENSP00000515177.1:n.*1218C>A
ENST00000703111.1:n.1723C>A
ENST00000703112.1:n.2489C>A
ENST00000703113.1:c.*1129C>A	ENSP00000515178.1:n.*1129C>A
ENST00000703114.1:c.*365C>A	ENSP00000515179.1:n.*365C>A
ENST00000703115.1:c.829C>A	ENSP00000515180.1:n.829C>A
ENST00000323786.10:c.1716C>A MANE Select	ENSP00000315775.5:p.Asp572Glu
ENST00000564415.6:c.*1496C>A	ENSP00000456653.2:n.*1496C>A
ENST00000674443.1:c.1641C>A	ENSP00000501405.1:p.Asp547Glu
ENST00000323786.9:c.1716C>A	ENSP00000315775.5:p.Asp572Glu
ENST00000393612.8:c.1653C>A	ENSP00000377236.5:p.Asp551Glu
ENST00000482252.5:c.1863C>A	ENSP00000432802.1:n.1863C>A
ENST00000526700.5:n.892C>A
ENST00000530314.5:n.2395C>A
ENST00000564315.1:n.176C>A
ENST00000564415.5:c.*1496C>A	ENSP00000456653.1:n.*1496C>A
NM_001195139.1:c.1653C>A	NP_001182068.1:p.Asp551Glu
NM_015386.2:c.1716C>A	NP_056201.2:p.Asp572Glu
XM_011522981.1:c.1290C>A	XP_011521283.1:p.Asp430Glu
XR_933266.1:n.1662C>A
XR_933267.1:n.1662C>A
XM_011522981.3:c.1290C>A	XP_011521283.1:p.Asp430Glu
XM_024450224.1:c.735C>A	XP_024305992.1:p.Asp245Glu
XR_001751889.1:n.1599C>A
XR_933266.2:n.1662C>A
NM_015386.3:c.1716C>A MANE Select	NP_056201.2:p.Asp572Glu
NM_001195139.2:c.1641C>A	NP_001182068.2:p.Asp547Glu
NM_001365426.1:c.1290C>A	NP_001352355.1:p.Asp430Glu
NR_158212.1:n.1675C>A