Canonical Allele Identifier: CA396578486

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515366C>T (hg19) ; chr16:g.70481463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481463C>T , CM000678.2:g.70481463C>T	GRCh38
NC_000016.9:g.70515366C>T , CM000678.1:g.70515366C>T	GRCh37
NC_000016.8:g.69072867C>T	NCBI36
NG_027529.1:g.47092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2207G>A	ENSP00000461912.2:n.*2207G>A
ENST00000703106.1:c.2176G>A	ENSP00000515173.1:n.2176G>A
ENST00000703107.1:c.*2060G>A	ENSP00000515174.1:n.*2060G>A
ENST00000703108.1:c.*579G>A	ENSP00000515175.1:n.*579G>A
ENST00000703109.1:c.2164G>A	ENSP00000515176.1:p.Glu722Lys
ENST00000703110.1:c.*1633G>A	ENSP00000515177.1:n.*1633G>A
ENST00000703111.1:n.2414G>A
ENST00000703112.1:n.3075G>A
ENST00000703113.1:c.*1544G>A	ENSP00000515178.1:n.*1544G>A
ENST00000703114.1:c.*780G>A	ENSP00000515179.1:n.*780G>A
ENST00000703115.1:c.1244G>A	ENSP00000515180.1:n.1244G>A
ENST00000323786.10:c.2131G>A MANE Select	ENSP00000315775.5:p.Glu711Lys
ENST00000564415.6:c.*1911G>A	ENSP00000456653.2:n.*1911G>A
ENST00000674443.1:c.2056G>A	ENSP00000501405.1:p.Glu686Lys
ENST00000323786.9:c.2131G>A	ENSP00000315775.5:p.Glu711Lys
ENST00000393612.8:c.2068G>A	ENSP00000377236.5:p.Glu690Lys
ENST00000482252.5:c.2278G>A	ENSP00000432802.1:n.2278G>A
ENST00000526700.5:n.1307G>A
ENST00000530314.5:n.2810G>A
ENST00000564415.5:c.*1911G>A	ENSP00000456653.1:n.*1911G>A
ENST00000565715.1:c.193G>A	ENSP00000455693.1:p.Glu65Lys
NM_001195139.1:c.2068G>A	NP_001182068.1:p.Glu690Lys
NM_015386.2:c.2131G>A	NP_056201.2:p.Glu711Lys
XM_011522981.1:c.1705G>A	XP_011521283.1:p.Glu569Lys
XM_011522981.3:c.1705G>A	XP_011521283.1:p.Glu569Lys
XM_024450224.1:c.1150G>A	XP_024305992.1:p.Glu384Lys
XR_001751889.1:n.2014G>A
XR_933266.2:n.2077G>A
NM_015386.3:c.2131G>A MANE Select	NP_056201.2:p.Glu711Lys
NM_001195139.2:c.2056G>A	NP_001182068.2:p.Glu686Lys
NM_001365426.1:c.1705G>A	NP_001352355.1:p.Glu569Lys
NR_158212.1:n.2090G>A