Canonical Allele Identifier: CA283483592

Gene: COG4

Linked Data

• dbSNP Id: rs922461184
• MyVariant Identifiers: chr16:g.70517868T>C (hg19) ; chr16:g.70483965T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483965T>C , CM000678.2:g.70483965T>C	GRCh38
NC_000016.9:g.70517868T>C , CM000678.1:g.70517868T>C	GRCh37
NC_000016.8:g.69075369T>C	NCBI36
NG_027529.1:g.44590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1791A>G	ENSP00000461912.2:n.*1791A>G
ENST00000703106.1:c.1760A>G	ENSP00000515173.1:n.1760A>G
ENST00000703107.1:c.*1644A>G	ENSP00000515174.1:n.*1644A>G
ENST00000703108.1:c.*163A>G	ENSP00000515175.1:n.*163A>G
ENST00000703109.1:c.1748A>G	ENSP00000515176.1:p.Asp583Gly
ENST00000703110.1:c.*1217A>G	ENSP00000515177.1:n.*1217A>G
ENST00000703111.1:n.1722A>G
ENST00000703112.1:n.2488A>G
ENST00000703113.1:c.*1128A>G	ENSP00000515178.1:n.*1128A>G
ENST00000703114.1:c.*364A>G	ENSP00000515179.1:n.*364A>G
ENST00000703115.1:c.828A>G	ENSP00000515180.1:n.828A>G
ENST00000323786.10:c.1715A>G MANE Select	ENSP00000315775.5:p.Asp572Gly
ENST00000564415.6:c.*1495A>G	ENSP00000456653.2:n.*1495A>G
ENST00000674443.1:c.1640A>G	ENSP00000501405.1:p.Asp547Gly
ENST00000323786.9:c.1715A>G	ENSP00000315775.5:p.Asp572Gly
ENST00000393612.8:c.1652A>G	ENSP00000377236.5:p.Asp551Gly
ENST00000482252.5:c.1862A>G	ENSP00000432802.1:n.1862A>G
ENST00000526700.5:n.891A>G
ENST00000530314.5:n.2394A>G
ENST00000564315.1:n.175A>G
ENST00000564415.5:c.*1495A>G	ENSP00000456653.1:n.*1495A>G
NM_001195139.1:c.1652A>G	NP_001182068.1:p.Asp551Gly
NM_015386.2:c.1715A>G	NP_056201.2:p.Asp572Gly
XM_011522981.1:c.1289A>G	XP_011521283.1:p.Asp430Gly
XR_933266.1:n.1661A>G
XR_933267.1:n.1661A>G
XM_011522981.3:c.1289A>G	XP_011521283.1:p.Asp430Gly
XM_024450224.1:c.734A>G	XP_024305992.1:p.Asp245Gly
XR_001751889.1:n.1598A>G
XR_933266.2:n.1661A>G
NM_015386.3:c.1715A>G MANE Select	NP_056201.2:p.Asp572Gly
NM_001195139.2:c.1640A>G	NP_001182068.2:p.Asp547Gly
NM_001365426.1:c.1289A>G	NP_001352355.1:p.Asp430Gly
NR_158212.1:n.1674A>G