Canonical Allele Identifier: CA2230762950

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483946G= , CM000678.2:g.70483946G=	GRCh38
NC_000016.9:g.70517849G= , CM000678.1:g.70517849G=	GRCh37
NC_000016.8:g.69075350G=	NCBI36
NG_027529.1:g.44609C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1810C=	ENSP00000461912.2:n.*1810C=
ENST00000703106.1:c.1779C=	ENSP00000515173.1:n.1779C=
ENST00000703107.1:c.*1663C=	ENSP00000515174.1:n.*1663C=
ENST00000703108.1:c.*182C=	ENSP00000515175.1:n.*182C=
ENST00000703109.1:c.1767C=	ENSP00000515176.1:p.Ser589=
ENST00000703110.1:c.*1236C=	ENSP00000515177.1:n.*1236C=
ENST00000703111.1:n.1741C=
ENST00000703112.1:n.2507C=
ENST00000703113.1:c.*1147C=	ENSP00000515178.1:n.*1147C=
ENST00000703114.1:c.*383C=	ENSP00000515179.1:n.*383C=
ENST00000703115.1:c.847C=	ENSP00000515180.1:n.847C=
ENST00000323786.10:c.1734C= MANE Select	ENSP00000315775.5:p.Ser578=
ENST00000564415.6:c.*1514C=	ENSP00000456653.2:n.*1514C=
ENST00000674443.1:c.1659C=	ENSP00000501405.1:p.Ser553=
ENST00000323786.9:c.1734C=	ENSP00000315775.5:p.Ser578=
ENST00000393612.8:c.1671C=	ENSP00000377236.5:p.Ser557=
ENST00000482252.5:c.1881C=	ENSP00000432802.1:n.1881C=
ENST00000526700.5:n.910C=
ENST00000530314.5:n.2413C=
ENST00000564315.1:n.194C=
ENST00000564415.5:c.*1514C=	ENSP00000456653.1:n.*1514C=
NM_001195139.1:c.1671C=	NP_001182068.1:p.Ser557=
NM_015386.2:c.1734C=	NP_056201.2:p.Ser578=
XM_011522981.1:c.1308C=	XP_011521283.1:p.Ser436=
XR_933266.1:n.1680C=
XR_933267.1:n.1680C=
XM_011522981.3:c.1308C=	XP_011521283.1:p.Ser436=
XM_024450224.1:c.753C=	XP_024305992.1:p.Ser251=
XR_001751889.1:n.1617C=
XR_933266.2:n.1680C=
NM_015386.3:c.1734C= MANE Select	NP_056201.2:p.Ser578=
NM_001195139.2:c.1659C=	NP_001182068.2:p.Ser553=
NM_001365426.1:c.1308C=	NP_001352355.1:p.Ser436=
NR_158212.1:n.1693C=