Canonical Allele Identifier: CA396578168

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515320G>C (hg19) ; chr16:g.70481417G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481417G>C , CM000678.2:g.70481417G>C	GRCh38
NC_000016.9:g.70515320G>C , CM000678.1:g.70515320G>C	GRCh37
NC_000016.8:g.69072821G>C	NCBI36
NG_027529.1:g.47138C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2253C>G	ENSP00000461912.2:n.*2253C>G
ENST00000703106.1:c.2222C>G	ENSP00000515173.1:n.2222C>G
ENST00000703107.1:c.*2106C>G	ENSP00000515174.1:n.*2106C>G
ENST00000703108.1:c.*625C>G	ENSP00000515175.1:n.*625C>G
ENST00000703109.1:c.2210C>G	ENSP00000515176.1:p.Thr737Ser
ENST00000703110.1:c.*1679C>G	ENSP00000515177.1:n.*1679C>G
ENST00000703111.1:n.2460C>G
ENST00000703112.1:n.3121C>G
ENST00000703113.1:c.*1590C>G	ENSP00000515178.1:n.*1590C>G
ENST00000703114.1:c.*826C>G	ENSP00000515179.1:n.*826C>G
ENST00000703115.1:c.1290C>G	ENSP00000515180.1:n.1290C>G
ENST00000323786.10:c.2177C>G MANE Select	ENSP00000315775.5:p.Thr726Ser
ENST00000564415.6:c.*1957C>G	ENSP00000456653.2:n.*1957C>G
ENST00000674443.1:c.2102C>G	ENSP00000501405.1:p.Thr701Ser
ENST00000323786.9:c.2177C>G	ENSP00000315775.5:p.Thr726Ser
ENST00000393612.8:c.2114C>G	ENSP00000377236.5:p.Thr705Ser
ENST00000482252.5:c.2324C>G	ENSP00000432802.1:n.2324C>G
ENST00000526700.5:n.1353C>G
ENST00000530314.5:n.2856C>G
ENST00000564415.5:c.*1957C>G	ENSP00000456653.1:n.*1957C>G
ENST00000565715.1:c.239C>G	ENSP00000455693.1:p.Thr80Ser
NM_001195139.1:c.2114C>G	NP_001182068.1:p.Thr705Ser
NM_015386.2:c.2177C>G	NP_056201.2:p.Thr726Ser
XM_011522981.1:c.1751C>G	XP_011521283.1:p.Thr584Ser
XM_011522981.3:c.1751C>G	XP_011521283.1:p.Thr584Ser
XM_024450224.1:c.1196C>G	XP_024305992.1:p.Thr399Ser
XR_933266.2:n.2123C>G
NM_015386.3:c.2177C>G MANE Select	NP_056201.2:p.Thr726Ser
NM_001195139.2:c.2102C>G	NP_001182068.2:p.Thr701Ser
NM_001365426.1:c.1751C>G	NP_001352355.1:p.Thr584Ser
NR_158212.1:n.2136C>G