Canonical Allele Identifier: CA396578472

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515365T>A (hg19) ; chr16:g.70481462T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481462T>A , CM000678.2:g.70481462T>A	GRCh38
NC_000016.9:g.70515365T>A , CM000678.1:g.70515365T>A	GRCh37
NC_000016.8:g.69072866T>A	NCBI36
NG_027529.1:g.47093A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2208A>T	ENSP00000461912.2:n.*2208A>T
ENST00000703106.1:c.2177A>T	ENSP00000515173.1:n.2177A>T
ENST00000703107.1:c.*2061A>T	ENSP00000515174.1:n.*2061A>T
ENST00000703108.1:c.*580A>T	ENSP00000515175.1:n.*580A>T
ENST00000703109.1:c.2165A>T	ENSP00000515176.1:p.Glu722Val
ENST00000703110.1:c.*1634A>T	ENSP00000515177.1:n.*1634A>T
ENST00000703111.1:n.2415A>T
ENST00000703112.1:n.3076A>T
ENST00000703113.1:c.*1545A>T	ENSP00000515178.1:n.*1545A>T
ENST00000703114.1:c.*781A>T	ENSP00000515179.1:n.*781A>T
ENST00000703115.1:c.1245A>T	ENSP00000515180.1:n.1245A>T
ENST00000323786.10:c.2132A>T MANE Select	ENSP00000315775.5:p.Glu711Val
ENST00000564415.6:c.*1912A>T	ENSP00000456653.2:n.*1912A>T
ENST00000674443.1:c.2057A>T	ENSP00000501405.1:p.Glu686Val
ENST00000323786.9:c.2132A>T	ENSP00000315775.5:p.Glu711Val
ENST00000393612.8:c.2069A>T	ENSP00000377236.5:p.Glu690Val
ENST00000482252.5:c.2279A>T	ENSP00000432802.1:n.2279A>T
ENST00000526700.5:n.1308A>T
ENST00000530314.5:n.2811A>T
ENST00000564415.5:c.*1912A>T	ENSP00000456653.1:n.*1912A>T
ENST00000565715.1:c.194A>T	ENSP00000455693.1:p.Glu65Val
NM_001195139.1:c.2069A>T	NP_001182068.1:p.Glu690Val
NM_015386.2:c.2132A>T	NP_056201.2:p.Glu711Val
XM_011522981.1:c.1706A>T	XP_011521283.1:p.Glu569Val
XM_011522981.3:c.1706A>T	XP_011521283.1:p.Glu569Val
XM_024450224.1:c.1151A>T	XP_024305992.1:p.Glu384Val
XR_001751889.1:n.2015A>T
XR_933266.2:n.2078A>T
NM_015386.3:c.2132A>T MANE Select	NP_056201.2:p.Glu711Val
NM_001195139.2:c.2057A>T	NP_001182068.2:p.Glu686Val
NM_001365426.1:c.1706A>T	NP_001352355.1:p.Glu569Val
NR_158212.1:n.2091A>T