Canonical Allele Identifier: CA283483599

Gene: COG4

Linked Data

• dbSNP Id: rs147318961
• MyVariant Identifiers: chr16:g.70517871C>T (hg19) ; chr16:g.70483968C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483968C>T , CM000678.2:g.70483968C>T	GRCh38
NC_000016.9:g.70517871C>T , CM000678.1:g.70517871C>T	GRCh37
NC_000016.8:g.69075372C>T	NCBI36
NG_027529.1:g.44587G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1788G>A	ENSP00000461912.2:n.*1788G>A
ENST00000703106.1:c.1757G>A	ENSP00000515173.1:n.1757G>A
ENST00000703107.1:c.*1641G>A	ENSP00000515174.1:n.*1641G>A
ENST00000703108.1:c.*160G>A	ENSP00000515175.1:n.*160G>A
ENST00000703109.1:c.1745G>A	ENSP00000515176.1:p.Ser582Asn
ENST00000703110.1:c.*1214G>A	ENSP00000515177.1:n.*1214G>A
ENST00000703111.1:n.1719G>A
ENST00000703112.1:n.2485G>A
ENST00000703113.1:c.*1125G>A	ENSP00000515178.1:n.*1125G>A
ENST00000703114.1:c.*361G>A	ENSP00000515179.1:n.*361G>A
ENST00000703115.1:c.825G>A	ENSP00000515180.1:n.825G>A
ENST00000323786.10:c.1712G>A MANE Select	ENSP00000315775.5:p.Ser571Asn
ENST00000564415.6:c.*1492G>A	ENSP00000456653.2:n.*1492G>A
ENST00000674443.1:c.1637G>A	ENSP00000501405.1:p.Ser546Asn
ENST00000323786.9:c.1712G>A	ENSP00000315775.5:p.Ser571Asn
ENST00000393612.8:c.1649G>A	ENSP00000377236.5:p.Ser550Asn
ENST00000482252.5:c.1859G>A	ENSP00000432802.1:n.1859G>A
ENST00000526700.5:n.888G>A
ENST00000530314.5:n.2391G>A
ENST00000564315.1:n.172G>A
ENST00000564415.5:c.*1492G>A	ENSP00000456653.1:n.*1492G>A
NM_001195139.1:c.1649G>A	NP_001182068.1:p.Ser550Asn
NM_015386.2:c.1712G>A	NP_056201.2:p.Ser571Asn
XM_011522981.1:c.1286G>A	XP_011521283.1:p.Ser429Asn
XR_933266.1:n.1658G>A
XR_933267.1:n.1658G>A
XM_011522981.3:c.1286G>A	XP_011521283.1:p.Ser429Asn
XM_024450224.1:c.731G>A	XP_024305992.1:p.Ser244Asn
XR_001751889.1:n.1595G>A
XR_933266.2:n.1658G>A
NM_015386.3:c.1712G>A MANE Select	NP_056201.2:p.Ser571Asn
NM_001195139.2:c.1637G>A	NP_001182068.2:p.Ser546Asn
NM_001365426.1:c.1286G>A	NP_001352355.1:p.Ser429Asn
NR_158212.1:n.1671G>A