Canonical Allele Identifier: CA396578072

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515306A>C (hg19) ; chr16:g.70481403A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481403A>C , CM000678.2:g.70481403A>C	GRCh38
NC_000016.9:g.70515306A>C , CM000678.1:g.70515306A>C	GRCh37
NC_000016.8:g.69072807A>C	NCBI36
NG_027529.1:g.47152T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2267T>G	ENSP00000461912.2:n.*2267T>G
ENST00000703106.1:c.2236T>G	ENSP00000515173.1:n.2236T>G
ENST00000703107.1:c.*2120T>G	ENSP00000515174.1:n.*2120T>G
ENST00000703108.1:c.*639T>G	ENSP00000515175.1:n.*639T>G
ENST00000703109.1:c.2224T>G	ENSP00000515176.1:p.Phe742Val
ENST00000703110.1:c.*1693T>G	ENSP00000515177.1:n.*1693T>G
ENST00000703111.1:n.2474T>G
ENST00000703112.1:n.3135T>G
ENST00000703113.1:c.*1604T>G	ENSP00000515178.1:n.*1604T>G
ENST00000703114.1:c.*840T>G	ENSP00000515179.1:n.*840T>G
ENST00000703115.1:c.1304T>G	ENSP00000515180.1:n.1304T>G
ENST00000323786.10:c.2191T>G MANE Select	ENSP00000315775.5:p.Phe731Val
ENST00000564415.6:c.*1971T>G	ENSP00000456653.2:n.*1971T>G
ENST00000674443.1:c.2116T>G	ENSP00000501405.1:p.Phe706Val
ENST00000323786.9:c.2191T>G	ENSP00000315775.5:p.Phe731Val
ENST00000393612.8:c.2128T>G	ENSP00000377236.5:p.Phe710Val
ENST00000482252.5:c.2338T>G	ENSP00000432802.1:n.2338T>G
ENST00000526700.5:n.1367T>G
ENST00000530314.5:n.2870T>G
ENST00000564415.5:c.*1971T>G	ENSP00000456653.1:n.*1971T>G
ENST00000565715.1:c.253T>G	ENSP00000455693.1:p.Phe85Val
NM_001195139.1:c.2128T>G	NP_001182068.1:p.Phe710Val
NM_015386.2:c.2191T>G	NP_056201.2:p.Phe731Val
XM_011522981.1:c.1765T>G	XP_011521283.1:p.Phe589Val
XM_011522981.3:c.1765T>G	XP_011521283.1:p.Phe589Val
XM_024450224.1:c.1210T>G	XP_024305992.1:p.Phe404Val
XR_933266.2:n.2137T>G
NM_015386.3:c.2191T>G MANE Select	NP_056201.2:p.Phe731Val
NM_001195139.2:c.2116T>G	NP_001182068.2:p.Phe706Val
NM_001365426.1:c.1765T>G	NP_001352355.1:p.Phe589Val
NR_158212.1:n.2150T>G