Canonical Allele Identifier: CA396578281

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515336T>C (hg19) ; chr16:g.70481433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481433T>C , CM000678.2:g.70481433T>C	GRCh38
NC_000016.9:g.70515336T>C , CM000678.1:g.70515336T>C	GRCh37
NC_000016.8:g.69072837T>C	NCBI36
NG_027529.1:g.47122A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2237A>G	ENSP00000461912.2:n.*2237A>G
ENST00000703106.1:c.2206A>G	ENSP00000515173.1:n.2206A>G
ENST00000703107.1:c.*2090A>G	ENSP00000515174.1:n.*2090A>G
ENST00000703108.1:c.*609A>G	ENSP00000515175.1:n.*609A>G
ENST00000703109.1:c.2194A>G	ENSP00000515176.1:p.Thr732Ala
ENST00000703110.1:c.*1663A>G	ENSP00000515177.1:n.*1663A>G
ENST00000703111.1:n.2444A>G
ENST00000703112.1:n.3105A>G
ENST00000703113.1:c.*1574A>G	ENSP00000515178.1:n.*1574A>G
ENST00000703114.1:c.*810A>G	ENSP00000515179.1:n.*810A>G
ENST00000703115.1:c.1274A>G	ENSP00000515180.1:n.1274A>G
ENST00000323786.10:c.2161A>G MANE Select	ENSP00000315775.5:p.Thr721Ala
ENST00000564415.6:c.*1941A>G	ENSP00000456653.2:n.*1941A>G
ENST00000674443.1:c.2086A>G	ENSP00000501405.1:p.Thr696Ala
ENST00000323786.9:c.2161A>G	ENSP00000315775.5:p.Thr721Ala
ENST00000393612.8:c.2098A>G	ENSP00000377236.5:p.Thr700Ala
ENST00000482252.5:c.2308A>G	ENSP00000432802.1:n.2308A>G
ENST00000526700.5:n.1337A>G
ENST00000530314.5:n.2840A>G
ENST00000564415.5:c.*1941A>G	ENSP00000456653.1:n.*1941A>G
ENST00000565715.1:c.223A>G	ENSP00000455693.1:p.Thr75Ala
NM_001195139.1:c.2098A>G	NP_001182068.1:p.Thr700Ala
NM_015386.2:c.2161A>G	NP_056201.2:p.Thr721Ala
XM_011522981.1:c.1735A>G	XP_011521283.1:p.Thr579Ala
XM_011522981.3:c.1735A>G	XP_011521283.1:p.Thr579Ala
XM_024450224.1:c.1180A>G	XP_024305992.1:p.Thr394Ala
XR_933266.2:n.2107A>G
NM_015386.3:c.2161A>G MANE Select	NP_056201.2:p.Thr721Ala
NM_001195139.2:c.2086A>G	NP_001182068.2:p.Thr696Ala
NM_001365426.1:c.1735A>G	NP_001352355.1:p.Thr579Ala
NR_158212.1:n.2120A>G