Canonical Allele Identifier: CA396580656

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517795G>T (hg19) ; chr16:g.70483892G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483892G>T , CM000678.2:g.70483892G>T	GRCh38
NC_000016.9:g.70517795G>T , CM000678.1:g.70517795G>T	GRCh37
NC_000016.8:g.69075296G>T	NCBI36
NG_027529.1:g.44663C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1864C>A	ENSP00000461912.2:n.*1864C>A
ENST00000703106.1:c.1833C>A	ENSP00000515173.1:n.1833C>A
ENST00000703107.1:c.*1717C>A	ENSP00000515174.1:n.*1717C>A
ENST00000703108.1:c.*236C>A	ENSP00000515175.1:n.*236C>A
ENST00000703109.1:c.1821C>A	ENSP00000515176.1:p.Asp607Glu
ENST00000703110.1:c.*1290C>A	ENSP00000515177.1:n.*1290C>A
ENST00000703111.1:n.1795C>A
ENST00000703112.1:n.2561C>A
ENST00000703113.1:c.*1201C>A	ENSP00000515178.1:n.*1201C>A
ENST00000703114.1:c.*437C>A	ENSP00000515179.1:n.*437C>A
ENST00000703115.1:c.901C>A	ENSP00000515180.1:n.901C>A
ENST00000323786.10:c.1788C>A MANE Select	ENSP00000315775.5:p.Asp596Glu
ENST00000564415.6:c.*1568C>A	ENSP00000456653.2:n.*1568C>A
ENST00000674443.1:c.1713C>A	ENSP00000501405.1:p.Asp571Glu
ENST00000323786.9:c.1788C>A	ENSP00000315775.5:p.Asp596Glu
ENST00000393612.8:c.1725C>A	ENSP00000377236.5:p.Asp575Glu
ENST00000482252.5:c.1935C>A	ENSP00000432802.1:n.1935C>A
ENST00000526700.5:n.964C>A
ENST00000530314.5:n.2467C>A
ENST00000564315.1:n.248C>A
ENST00000564415.5:c.*1568C>A	ENSP00000456653.1:n.*1568C>A
NM_001195139.1:c.1725C>A	NP_001182068.1:p.Asp575Glu
NM_015386.2:c.1788C>A	NP_056201.2:p.Asp596Glu
XM_011522981.1:c.1362C>A	XP_011521283.1:p.Asp454Glu
XR_933266.1:n.1734C>A
XR_933267.1:n.1734C>A
XM_011522981.3:c.1362C>A	XP_011521283.1:p.Asp454Glu
XM_024450224.1:c.807C>A	XP_024305992.1:p.Asp269Glu
XR_001751889.1:n.1671C>A
XR_933266.2:n.1734C>A
NM_015386.3:c.1788C>A MANE Select	NP_056201.2:p.Asp596Glu
NM_001195139.2:c.1713C>A	NP_001182068.2:p.Asp571Glu
NM_001365426.1:c.1362C>A	NP_001352355.1:p.Asp454Glu
NR_158212.1:n.1747C>A