Canonical Allele Identifier: CA396580598

Gene: COG4

Linked Data

• gnomAD v4: 16-70483864-C-T
• MyVariant Identifiers: chr16:g.70517767C>T (hg19) ; chr16:g.70483864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483864C>T , CM000678.2:g.70483864C>T	GRCh38
NC_000016.9:g.70517767C>T , CM000678.1:g.70517767C>T	GRCh37
NC_000016.8:g.69075268C>T	NCBI36
NG_027529.1:g.44691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1892G>A	ENSP00000461912.2:n.*1892G>A
ENST00000703106.1:c.1861G>A	ENSP00000515173.1:n.1861G>A
ENST00000703107.1:c.*1745G>A	ENSP00000515174.1:n.*1745G>A
ENST00000703108.1:c.*264G>A	ENSP00000515175.1:n.*264G>A
ENST00000703109.1:c.1849G>A	ENSP00000515176.1:p.Asp617Asn
ENST00000703110.1:c.*1318G>A	ENSP00000515177.1:n.*1318G>A
ENST00000703111.1:n.1823G>A
ENST00000703112.1:n.2589G>A
ENST00000703113.1:c.*1229G>A	ENSP00000515178.1:n.*1229G>A
ENST00000703114.1:c.*465G>A	ENSP00000515179.1:n.*465G>A
ENST00000703115.1:c.929G>A	ENSP00000515180.1:n.929G>A
ENST00000323786.10:c.1816G>A MANE Select	ENSP00000315775.5:p.Asp606Asn
ENST00000564415.6:c.*1596G>A	ENSP00000456653.2:n.*1596G>A
ENST00000674443.1:c.1741G>A	ENSP00000501405.1:p.Asp581Asn
ENST00000323786.9:c.1816G>A	ENSP00000315775.5:p.Asp606Asn
ENST00000393612.8:c.1753G>A	ENSP00000377236.5:p.Asp585Asn
ENST00000482252.5:c.1963G>A	ENSP00000432802.1:n.1963G>A
ENST00000526700.5:n.992G>A
ENST00000530314.5:n.2495G>A
ENST00000564315.1:n.276G>A
ENST00000564415.5:c.*1596G>A	ENSP00000456653.1:n.*1596G>A
NM_001195139.1:c.1753G>A	NP_001182068.1:p.Asp585Asn
NM_015386.2:c.1816G>A	NP_056201.2:p.Asp606Asn
XM_011522981.1:c.1390G>A	XP_011521283.1:p.Asp464Asn
XR_933266.1:n.1762G>A
XR_933267.1:n.1762G>A
XM_011522981.3:c.1390G>A	XP_011521283.1:p.Asp464Asn
XM_024450224.1:c.835G>A	XP_024305992.1:p.Asp279Asn
XR_001751889.1:n.1699G>A
XR_933266.2:n.1762G>A
NM_015386.3:c.1816G>A MANE Select	NP_056201.2:p.Asp606Asn
NM_001195139.2:c.1741G>A	NP_001182068.2:p.Asp581Asn
NM_001365426.1:c.1390G>A	NP_001352355.1:p.Asp464Asn
NR_158212.1:n.1775G>A