Canonical Allele Identifier: CA496228762

Gene: COG4

Linked Data

• gnomAD v4: 16-70483964-G-A
• MyVariant Identifiers: chr16:g.70517867G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483964G>A , CM000678.2:g.70483964G>A	GRCh38
NC_000016.9:g.70517867G>A , CM000678.1:g.70517867G>A	GRCh37
NC_000016.8:g.69075368G>A	NCBI36
NG_027529.1:g.44591C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1792C>T	ENSP00000461912.2:n.*1792C>T
ENST00000703106.1:c.1761C>T	ENSP00000515173.1:n.1761C>T
ENST00000703107.1:c.*1645C>T	ENSP00000515174.1:n.*1645C>T
ENST00000703108.1:c.*164C>T	ENSP00000515175.1:n.*164C>T
ENST00000703109.1:c.1749C>T	ENSP00000515176.1:p.Asp583=
ENST00000703110.1:c.*1218C>T	ENSP00000515177.1:n.*1218C>T
ENST00000703111.1:n.1723C>T
ENST00000703112.1:n.2489C>T
ENST00000703113.1:c.*1129C>T	ENSP00000515178.1:n.*1129C>T
ENST00000703114.1:c.*365C>T	ENSP00000515179.1:n.*365C>T
ENST00000703115.1:c.829C>T	ENSP00000515180.1:n.829C>T
ENST00000323786.10:c.1716C>T MANE Select	ENSP00000315775.5:p.Asp572=
ENST00000564415.6:c.*1496C>T	ENSP00000456653.2:n.*1496C>T
ENST00000674443.1:c.1641C>T	ENSP00000501405.1:p.Asp547=
ENST00000323786.9:c.1716C>T	ENSP00000315775.5:p.Asp572=
ENST00000393612.8:c.1653C>T	ENSP00000377236.5:p.Asp551=
ENST00000482252.5:c.1863C>T	ENSP00000432802.1:n.1863C>T
ENST00000526700.5:n.892C>T
ENST00000530314.5:n.2395C>T
ENST00000564315.1:n.176C>T
ENST00000564415.5:c.*1496C>T	ENSP00000456653.1:n.*1496C>T
NM_001195139.1:c.1653C>T	NP_001182068.1:p.Asp551=
NM_015386.2:c.1716C>T	NP_056201.2:p.Asp572=
XM_011522981.1:c.1290C>T	XP_011521283.1:p.Asp430=
XR_933266.1:n.1662C>T
XR_933267.1:n.1662C>T
XM_011522981.3:c.1290C>T	XP_011521283.1:p.Asp430=
XM_024450224.1:c.735C>T	XP_024305992.1:p.Asp245=
XR_001751889.1:n.1599C>T
XR_933266.2:n.1662C>T
NM_015386.3:c.1716C>T MANE Select	NP_056201.2:p.Asp572=
NM_001195139.2:c.1641C>T	NP_001182068.2:p.Asp547=
NM_001365426.1:c.1290C>T	NP_001352355.1:p.Asp430=
NR_158212.1:n.1675C>T