Canonical Allele Identifier: CA396580825

Gene: COG4

Linked Data

• dbSNP Id: rs2049072103
• MyVariant Identifiers: chr16:g.70517869C>T (hg19) ; chr16:g.70483966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483966C>T , CM000678.2:g.70483966C>T	GRCh38
NC_000016.9:g.70517869C>T , CM000678.1:g.70517869C>T	GRCh37
NC_000016.8:g.69075370C>T	NCBI36
NG_027529.1:g.44589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1790G>A	ENSP00000461912.2:n.*1790G>A
ENST00000703106.1:c.1759G>A	ENSP00000515173.1:n.1759G>A
ENST00000703107.1:c.*1643G>A	ENSP00000515174.1:n.*1643G>A
ENST00000703108.1:c.*162G>A	ENSP00000515175.1:n.*162G>A
ENST00000703109.1:c.1747G>A	ENSP00000515176.1:p.Asp583Asn
ENST00000703110.1:c.*1216G>A	ENSP00000515177.1:n.*1216G>A
ENST00000703111.1:n.1721G>A
ENST00000703112.1:n.2487G>A
ENST00000703113.1:c.*1127G>A	ENSP00000515178.1:n.*1127G>A
ENST00000703114.1:c.*363G>A	ENSP00000515179.1:n.*363G>A
ENST00000703115.1:c.827G>A	ENSP00000515180.1:n.827G>A
ENST00000323786.10:c.1714G>A MANE Select	ENSP00000315775.5:p.Asp572Asn
ENST00000564415.6:c.*1494G>A	ENSP00000456653.2:n.*1494G>A
ENST00000674443.1:c.1639G>A	ENSP00000501405.1:p.Asp547Asn
ENST00000323786.9:c.1714G>A	ENSP00000315775.5:p.Asp572Asn
ENST00000393612.8:c.1651G>A	ENSP00000377236.5:p.Asp551Asn
ENST00000482252.5:c.1861G>A	ENSP00000432802.1:n.1861G>A
ENST00000526700.5:n.890G>A
ENST00000530314.5:n.2393G>A
ENST00000564315.1:n.174G>A
ENST00000564415.5:c.*1494G>A	ENSP00000456653.1:n.*1494G>A
NM_001195139.1:c.1651G>A	NP_001182068.1:p.Asp551Asn
NM_015386.2:c.1714G>A	NP_056201.2:p.Asp572Asn
XM_011522981.1:c.1288G>A	XP_011521283.1:p.Asp430Asn
XR_933266.1:n.1660G>A
XR_933267.1:n.1660G>A
XM_011522981.3:c.1288G>A	XP_011521283.1:p.Asp430Asn
XM_024450224.1:c.733G>A	XP_024305992.1:p.Asp245Asn
XR_001751889.1:n.1597G>A
XR_933266.2:n.1660G>A
NM_015386.3:c.1714G>A MANE Select	NP_056201.2:p.Asp572Asn
NM_001195139.2:c.1639G>A	NP_001182068.2:p.Asp547Asn
NM_001365426.1:c.1288G>A	NP_001352355.1:p.Asp430Asn
NR_158212.1:n.1673G>A