Canonical Allele Identifier: CA396578280

Gene: COG4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2237A>T	ENSP00000461912.2:n.*2237A>T
ENST00000703106.1:c.2206A>T	ENSP00000515173.1:n.2206A>T
ENST00000703107.1:c.*2090A>T	ENSP00000515174.1:n.*2090A>T
ENST00000703108.1:c.*609A>T	ENSP00000515175.1:n.*609A>T
ENST00000703109.1:c.2194A>T	ENSP00000515176.1:p.Thr732Ser
ENST00000703110.1:c.*1663A>T	ENSP00000515177.1:n.*1663A>T
ENST00000703111.1:n.2444A>T
ENST00000703112.1:n.3105A>T
ENST00000703113.1:c.*1574A>T	ENSP00000515178.1:n.*1574A>T
ENST00000703114.1:c.*810A>T	ENSP00000515179.1:n.*810A>T
ENST00000703115.1:c.1274A>T	ENSP00000515180.1:n.1274A>T
ENST00000323786.10:c.2161A>T MANE Select	ENSP00000315775.5:p.Thr721Ser
ENST00000564415.6:c.*1941A>T	ENSP00000456653.2:n.*1941A>T
ENST00000674443.1:c.2086A>T	ENSP00000501405.1:p.Thr696Ser
ENST00000323786.9:c.2161A>T	ENSP00000315775.5:p.Thr721Ser
ENST00000393612.8:c.2098A>T	ENSP00000377236.5:p.Thr700Ser
ENST00000482252.5:c.2308A>T	ENSP00000432802.1:n.2308A>T
ENST00000526700.5:n.1337A>T
ENST00000530314.5:n.2840A>T
ENST00000564415.5:c.*1941A>T	ENSP00000456653.1:n.*1941A>T
ENST00000565715.1:c.223A>T	ENSP00000455693.1:p.Thr75Ser
NM_001195139.1:c.2098A>T	NP_001182068.1:p.Thr700Ser
NM_015386.2:c.2161A>T	NP_056201.2:p.Thr721Ser
XM_011522981.1:c.1735A>T	XP_011521283.1:p.Thr579Ser
XM_011522981.3:c.1735A>T	XP_011521283.1:p.Thr579Ser
XM_024450224.1:c.1180A>T	XP_024305992.1:p.Thr394Ser
XR_933266.2:n.2107A>T
NM_015386.3:c.2161A>T MANE Select	NP_056201.2:p.Thr721Ser
NM_001195139.2:c.2086A>T	NP_001182068.2:p.Thr696Ser
NM_001365426.1:c.1735A>T	NP_001352355.1:p.Thr579Ser
NR_158212.1:n.2120A>T