Canonical Allele Identifier: CA496227794

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515319G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481416G>C , CM000678.2:g.70481416G>C	GRCh38
NC_000016.9:g.70515319G>C , CM000678.1:g.70515319G>C	GRCh37
NC_000016.8:g.69072820G>C	NCBI36
NG_027529.1:g.47139C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2254C>G	ENSP00000461912.2:n.*2254C>G
ENST00000703106.1:c.2223C>G	ENSP00000515173.1:n.2223C>G
ENST00000703107.1:c.*2107C>G	ENSP00000515174.1:n.*2107C>G
ENST00000703108.1:c.*626C>G	ENSP00000515175.1:n.*626C>G
ENST00000703109.1:c.2211C>G	ENSP00000515176.1:p.Thr737=
ENST00000703110.1:c.*1680C>G	ENSP00000515177.1:n.*1680C>G
ENST00000703111.1:n.2461C>G
ENST00000703112.1:n.3122C>G
ENST00000703113.1:c.*1591C>G	ENSP00000515178.1:n.*1591C>G
ENST00000703114.1:c.*827C>G	ENSP00000515179.1:n.*827C>G
ENST00000703115.1:c.1291C>G	ENSP00000515180.1:n.1291C>G
ENST00000323786.10:c.2178C>G MANE Select	ENSP00000315775.5:p.Thr726=
ENST00000564415.6:c.*1958C>G	ENSP00000456653.2:n.*1958C>G
ENST00000674443.1:c.2103C>G	ENSP00000501405.1:p.Thr701=
ENST00000323786.9:c.2178C>G	ENSP00000315775.5:p.Thr726=
ENST00000393612.8:c.2115C>G	ENSP00000377236.5:p.Thr705=
ENST00000482252.5:c.2325C>G	ENSP00000432802.1:n.2325C>G
ENST00000526700.5:n.1354C>G
ENST00000530314.5:n.2857C>G
ENST00000564415.5:c.*1958C>G	ENSP00000456653.1:n.*1958C>G
ENST00000565715.1:c.240C>G	ENSP00000455693.1:p.Thr80=
NM_001195139.1:c.2115C>G	NP_001182068.1:p.Thr705=
NM_015386.2:c.2178C>G	NP_056201.2:p.Thr726=
XM_011522981.1:c.1752C>G	XP_011521283.1:p.Thr584=
XM_011522981.3:c.1752C>G	XP_011521283.1:p.Thr584=
XM_024450224.1:c.1197C>G	XP_024305992.1:p.Thr399=
XR_933266.2:n.2124C>G
NM_015386.3:c.2178C>G MANE Select	NP_056201.2:p.Thr726=
NM_001195139.2:c.2103C>G	NP_001182068.2:p.Thr701=
NM_001365426.1:c.1752C>G	NP_001352355.1:p.Thr584=
NR_158212.1:n.2137C>G