Canonical Allele Identifier: CA2230762945

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483943C= , CM000678.2:g.70483943C=	GRCh38
NC_000016.9:g.70517846C= , CM000678.1:g.70517846C=	GRCh37
NC_000016.8:g.69075347C=	NCBI36
NG_027529.1:g.44612G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1813G=	ENSP00000461912.2:n.*1813G=
ENST00000703106.1:c.1782G=	ENSP00000515173.1:n.1782G=
ENST00000703107.1:c.*1666G=	ENSP00000515174.1:n.*1666G=
ENST00000703108.1:c.*185G=	ENSP00000515175.1:n.*185G=
ENST00000703109.1:c.1770G=	ENSP00000515176.1:p.Gln590=
ENST00000703110.1:c.*1239G=	ENSP00000515177.1:n.*1239G=
ENST00000703111.1:n.1744G=
ENST00000703112.1:n.2510G=
ENST00000703113.1:c.*1150G=	ENSP00000515178.1:n.*1150G=
ENST00000703114.1:c.*386G=	ENSP00000515179.1:n.*386G=
ENST00000703115.1:c.850G=	ENSP00000515180.1:n.850G=
ENST00000323786.10:c.1737G= MANE Select	ENSP00000315775.5:p.Gln579=
ENST00000564415.6:c.*1517G=	ENSP00000456653.2:n.*1517G=
ENST00000674443.1:c.1662G=	ENSP00000501405.1:p.Gln554=
ENST00000323786.9:c.1737G=	ENSP00000315775.5:p.Gln579=
ENST00000393612.8:c.1674G=	ENSP00000377236.5:p.Gln558=
ENST00000482252.5:c.1884G=	ENSP00000432802.1:n.1884G=
ENST00000526700.5:n.913G=
ENST00000530314.5:n.2416G=
ENST00000564315.1:n.197G=
ENST00000564415.5:c.*1517G=	ENSP00000456653.1:n.*1517G=
NM_001195139.1:c.1674G=	NP_001182068.1:p.Gln558=
NM_015386.2:c.1737G=	NP_056201.2:p.Gln579=
XM_011522981.1:c.1311G=	XP_011521283.1:p.Gln437=
XR_933266.1:n.1683G=
XR_933267.1:n.1683G=
XM_011522981.3:c.1311G=	XP_011521283.1:p.Gln437=
XM_024450224.1:c.756G=	XP_024305992.1:p.Gln252=
XR_001751889.1:n.1620G=
XR_933266.2:n.1683G=
NM_015386.3:c.1737G= MANE Select	NP_056201.2:p.Gln579=
NM_001195139.2:c.1662G=	NP_001182068.2:p.Gln554=
NM_001365426.1:c.1311G=	NP_001352355.1:p.Gln437=
NR_158212.1:n.1696G=