Canonical Allele Identifier: CA2230785029

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481452C= , CM000678.2:g.70481452C=	GRCh38
NC_000016.9:g.70515355C= , CM000678.1:g.70515355C=	GRCh37
NC_000016.8:g.69072856C=	NCBI36
NG_027529.1:g.47103G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2218G=	ENSP00000461912.2:n.*2218G=
ENST00000703106.1:c.2187G=	ENSP00000515173.1:n.2187G=
ENST00000703107.1:c.*2071G=	ENSP00000515174.1:n.*2071G=
ENST00000703108.1:c.*590G=	ENSP00000515175.1:n.*590G=
ENST00000703109.1:c.2175G=	ENSP00000515176.1:p.Ser725=
ENST00000703110.1:c.*1644G=	ENSP00000515177.1:n.*1644G=
ENST00000703111.1:n.2425G=
ENST00000703112.1:n.3086G=
ENST00000703113.1:c.*1555G=	ENSP00000515178.1:n.*1555G=
ENST00000703114.1:c.*791G=	ENSP00000515179.1:n.*791G=
ENST00000703115.1:c.1255G=	ENSP00000515180.1:n.1255G=
ENST00000323786.10:c.2142G= MANE Select	ENSP00000315775.5:p.Ser714=
ENST00000564415.6:c.*1922G=	ENSP00000456653.2:n.*1922G=
ENST00000674443.1:c.2067G=	ENSP00000501405.1:p.Ser689=
ENST00000323786.9:c.2142G=	ENSP00000315775.5:p.Ser714=
ENST00000393612.8:c.2079G=	ENSP00000377236.5:p.Ser693=
ENST00000482252.5:c.2289G=	ENSP00000432802.1:n.2289G=
ENST00000526700.5:n.1318G=
ENST00000530314.5:n.2821G=
ENST00000564415.5:c.*1922G=	ENSP00000456653.1:n.*1922G=
ENST00000565715.1:c.204G=	ENSP00000455693.1:p.Ser68=
NM_001195139.1:c.2079G=	NP_001182068.1:p.Ser693=
NM_015386.2:c.2142G=	NP_056201.2:p.Ser714=
XM_011522981.1:c.1716G=	XP_011521283.1:p.Ser572=
XM_011522981.3:c.1716G=	XP_011521283.1:p.Ser572=
XM_024450224.1:c.1161G=	XP_024305992.1:p.Ser387=
XR_933266.2:n.2088G=
NM_015386.3:c.2142G= MANE Select	NP_056201.2:p.Ser714=
NM_001195139.2:c.2067G=	NP_001182068.2:p.Ser689=
NM_001365426.1:c.1716G=	NP_001352355.1:p.Ser572=
NR_158212.1:n.2101G=