Canonical Allele Identifier: CA396580751

Gene: COG4

Linked Data

• gnomAD v4: 16-70483933-C-T
• MyVariant Identifiers: chr16:g.70517836C>T (hg19) ; chr16:g.70483933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483933C>T , CM000678.2:g.70483933C>T	GRCh38
NC_000016.9:g.70517836C>T , CM000678.1:g.70517836C>T	GRCh37
NC_000016.8:g.69075337C>T	NCBI36
NG_027529.1:g.44622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1823G>A	ENSP00000461912.2:n.*1823G>A
ENST00000703106.1:c.1792G>A	ENSP00000515173.1:n.1792G>A
ENST00000703107.1:c.*1676G>A	ENSP00000515174.1:n.*1676G>A
ENST00000703108.1:c.*195G>A	ENSP00000515175.1:n.*195G>A
ENST00000703109.1:c.1780G>A	ENSP00000515176.1:p.Gly594Arg
ENST00000703110.1:c.*1249G>A	ENSP00000515177.1:n.*1249G>A
ENST00000703111.1:n.1754G>A
ENST00000703112.1:n.2520G>A
ENST00000703113.1:c.*1160G>A	ENSP00000515178.1:n.*1160G>A
ENST00000703114.1:c.*396G>A	ENSP00000515179.1:n.*396G>A
ENST00000703115.1:c.860G>A	ENSP00000515180.1:n.860G>A
ENST00000323786.10:c.1747G>A MANE Select	ENSP00000315775.5:p.Gly583Arg
ENST00000564415.6:c.*1527G>A	ENSP00000456653.2:n.*1527G>A
ENST00000674443.1:c.1672G>A	ENSP00000501405.1:p.Gly558Arg
ENST00000323786.9:c.1747G>A	ENSP00000315775.5:p.Gly583Arg
ENST00000393612.8:c.1684G>A	ENSP00000377236.5:p.Gly562Arg
ENST00000482252.5:c.1894G>A	ENSP00000432802.1:n.1894G>A
ENST00000526700.5:n.923G>A
ENST00000530314.5:n.2426G>A
ENST00000564315.1:n.207G>A
ENST00000564415.5:c.*1527G>A	ENSP00000456653.1:n.*1527G>A
NM_001195139.1:c.1684G>A	NP_001182068.1:p.Gly562Arg
NM_015386.2:c.1747G>A	NP_056201.2:p.Gly583Arg
XM_011522981.1:c.1321G>A	XP_011521283.1:p.Gly441Arg
XR_933266.1:n.1693G>A
XR_933267.1:n.1693G>A
XM_011522981.3:c.1321G>A	XP_011521283.1:p.Gly441Arg
XM_024450224.1:c.766G>A	XP_024305992.1:p.Gly256Arg
XR_001751889.1:n.1630G>A
XR_933266.2:n.1693G>A
NM_015386.3:c.1747G>A MANE Select	NP_056201.2:p.Gly583Arg
NM_001195139.2:c.1672G>A	NP_001182068.2:p.Gly558Arg
NM_001365426.1:c.1321G>A	NP_001352355.1:p.Gly441Arg
NR_158212.1:n.1706G>A