Canonical Allele Identifier: CA2230762953

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483947C= , CM000678.2:g.70483947C=	GRCh38
NC_000016.9:g.70517850C= , CM000678.1:g.70517850C=	GRCh37
NC_000016.8:g.69075351C=	NCBI36
NG_027529.1:g.44608G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1809G=	ENSP00000461912.2:n.*1809G=
ENST00000703106.1:c.1778G=	ENSP00000515173.1:n.1778G=
ENST00000703107.1:c.*1662G=	ENSP00000515174.1:n.*1662G=
ENST00000703108.1:c.*181G=	ENSP00000515175.1:n.*181G=
ENST00000703109.1:c.1766G=	ENSP00000515176.1:p.Ser589=
ENST00000703110.1:c.*1235G=	ENSP00000515177.1:n.*1235G=
ENST00000703111.1:n.1740G=
ENST00000703112.1:n.2506G=
ENST00000703113.1:c.*1146G=	ENSP00000515178.1:n.*1146G=
ENST00000703114.1:c.*382G=	ENSP00000515179.1:n.*382G=
ENST00000703115.1:c.846G=	ENSP00000515180.1:n.846G=
ENST00000323786.10:c.1733G= MANE Select	ENSP00000315775.5:p.Ser578=
ENST00000564415.6:c.*1513G=	ENSP00000456653.2:n.*1513G=
ENST00000674443.1:c.1658G=	ENSP00000501405.1:p.Ser553=
ENST00000323786.9:c.1733G=	ENSP00000315775.5:p.Ser578=
ENST00000393612.8:c.1670G=	ENSP00000377236.5:p.Ser557=
ENST00000482252.5:c.1880G=	ENSP00000432802.1:n.1880G=
ENST00000526700.5:n.909G=
ENST00000530314.5:n.2412G=
ENST00000564315.1:n.193G=
ENST00000564415.5:c.*1513G=	ENSP00000456653.1:n.*1513G=
NM_001195139.1:c.1670G=	NP_001182068.1:p.Ser557=
NM_015386.2:c.1733G=	NP_056201.2:p.Ser578=
XM_011522981.1:c.1307G=	XP_011521283.1:p.Ser436=
XR_933266.1:n.1679G=
XR_933267.1:n.1679G=
XM_011522981.3:c.1307G=	XP_011521283.1:p.Ser436=
XM_024450224.1:c.752G=	XP_024305992.1:p.Ser251=
XR_001751889.1:n.1616G=
XR_933266.2:n.1679G=
NM_015386.3:c.1733G= MANE Select	NP_056201.2:p.Ser578=
NM_001195139.2:c.1658G=	NP_001182068.2:p.Ser553=
NM_001365426.1:c.1307G=	NP_001352355.1:p.Ser436=
NR_158212.1:n.1692G=