Canonical Allele Identifier: CA396580680

Gene: COG4

Linked Data

• gnomAD v4: 16-70483902-C-T
• MyVariant Identifiers: chr16:g.70517805C>T (hg19) ; chr16:g.70483902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483902C>T , CM000678.2:g.70483902C>T	GRCh38
NC_000016.9:g.70517805C>T , CM000678.1:g.70517805C>T	GRCh37
NC_000016.8:g.69075306C>T	NCBI36
NG_027529.1:g.44653G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1854G>A	ENSP00000461912.2:n.*1854G>A
ENST00000703106.1:c.1823G>A	ENSP00000515173.1:n.1823G>A
ENST00000703107.1:c.*1707G>A	ENSP00000515174.1:n.*1707G>A
ENST00000703108.1:c.*226G>A	ENSP00000515175.1:n.*226G>A
ENST00000703109.1:c.1811G>A	ENSP00000515176.1:p.Cys604Tyr
ENST00000703110.1:c.*1280G>A	ENSP00000515177.1:n.*1280G>A
ENST00000703111.1:n.1785G>A
ENST00000703112.1:n.2551G>A
ENST00000703113.1:c.*1191G>A	ENSP00000515178.1:n.*1191G>A
ENST00000703114.1:c.*427G>A	ENSP00000515179.1:n.*427G>A
ENST00000703115.1:c.891G>A	ENSP00000515180.1:n.891G>A
ENST00000323786.10:c.1778G>A MANE Select	ENSP00000315775.5:p.Cys593Tyr
ENST00000564415.6:c.*1558G>A	ENSP00000456653.2:n.*1558G>A
ENST00000674443.1:c.1703G>A	ENSP00000501405.1:p.Cys568Tyr
ENST00000323786.9:c.1778G>A	ENSP00000315775.5:p.Cys593Tyr
ENST00000393612.8:c.1715G>A	ENSP00000377236.5:p.Cys572Tyr
ENST00000482252.5:c.1925G>A	ENSP00000432802.1:n.1925G>A
ENST00000526700.5:n.954G>A
ENST00000530314.5:n.2457G>A
ENST00000564315.1:n.238G>A
ENST00000564415.5:c.*1558G>A	ENSP00000456653.1:n.*1558G>A
NM_001195139.1:c.1715G>A	NP_001182068.1:p.Cys572Tyr
NM_015386.2:c.1778G>A	NP_056201.2:p.Cys593Tyr
XM_011522981.1:c.1352G>A	XP_011521283.1:p.Cys451Tyr
XR_933266.1:n.1724G>A
XR_933267.1:n.1724G>A
XM_011522981.3:c.1352G>A	XP_011521283.1:p.Cys451Tyr
XM_024450224.1:c.797G>A	XP_024305992.1:p.Cys266Tyr
XR_001751889.1:n.1661G>A
XR_933266.2:n.1724G>A
NM_015386.3:c.1778G>A MANE Select	NP_056201.2:p.Cys593Tyr
NM_001195139.2:c.1703G>A	NP_001182068.2:p.Cys568Tyr
NM_001365426.1:c.1352G>A	NP_001352355.1:p.Cys451Tyr
NR_158212.1:n.1737G>A