Canonical Allele Identifier: CA283483583

Gene: COG4

Linked Data

• ClinVar Variation Id: 2731987
• ClinVar RCV Id: RCV003504446
• dbSNP Id: rs747661666
• gnomAD v2: 16-70517863-T-A
• gnomAD v4: 16-70483960-T-A
• MyVariant Identifiers: chr16:g.70517863T>A (hg19) ; chr16:g.70483960T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483960T>A , CM000678.2:g.70483960T>A	GRCh38
NC_000016.9:g.70517863T>A , CM000678.1:g.70517863T>A	GRCh37
NC_000016.8:g.69075364T>A	NCBI36
NG_027529.1:g.44595A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1796A>T	ENSP00000461912.2:n.*1796A>T
ENST00000703106.1:c.1765A>T	ENSP00000515173.1:n.1765A>T
ENST00000703107.1:c.*1649A>T	ENSP00000515174.1:n.*1649A>T
ENST00000703108.1:c.*168A>T	ENSP00000515175.1:n.*168A>T
ENST00000703109.1:c.1753A>T	ENSP00000515176.1:p.Thr585Ser
ENST00000703110.1:c.*1222A>T	ENSP00000515177.1:n.*1222A>T
ENST00000703111.1:n.1727A>T
ENST00000703112.1:n.2493A>T
ENST00000703113.1:c.*1133A>T	ENSP00000515178.1:n.*1133A>T
ENST00000703114.1:c.*369A>T	ENSP00000515179.1:n.*369A>T
ENST00000703115.1:c.833A>T	ENSP00000515180.1:n.833A>T
ENST00000323786.10:c.1720A>T MANE Select	ENSP00000315775.5:p.Thr574Ser
ENST00000564415.6:c.*1500A>T	ENSP00000456653.2:n.*1500A>T
ENST00000674443.1:c.1645A>T	ENSP00000501405.1:p.Thr549Ser
ENST00000323786.9:c.1720A>T	ENSP00000315775.5:p.Thr574Ser
ENST00000393612.8:c.1657A>T	ENSP00000377236.5:p.Thr553Ser
ENST00000482252.5:c.1867A>T	ENSP00000432802.1:n.1867A>T
ENST00000526700.5:n.896A>T
ENST00000530314.5:n.2399A>T
ENST00000564315.1:n.180A>T
ENST00000564415.5:c.*1500A>T	ENSP00000456653.1:n.*1500A>T
NM_001195139.1:c.1657A>T	NP_001182068.1:p.Thr553Ser
NM_015386.2:c.1720A>T	NP_056201.2:p.Thr574Ser
XM_011522981.1:c.1294A>T	XP_011521283.1:p.Thr432Ser
XR_933266.1:n.1666A>T
XR_933267.1:n.1666A>T
XM_011522981.3:c.1294A>T	XP_011521283.1:p.Thr432Ser
XM_024450224.1:c.739A>T	XP_024305992.1:p.Thr247Ser
XR_001751889.1:n.1603A>T
XR_933266.2:n.1666A>T
NM_015386.3:c.1720A>T MANE Select	NP_056201.2:p.Thr574Ser
NM_001195139.2:c.1645A>T	NP_001182068.2:p.Thr549Ser
NM_001365426.1:c.1294A>T	NP_001352355.1:p.Thr432Ser
NR_158212.1:n.1679A>T