Canonical Allele Identifier: CA2230762983

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483969T= , CM000678.2:g.70483969T=	GRCh38
NC_000016.9:g.70517872T= , CM000678.1:g.70517872T=	GRCh37
NC_000016.8:g.69075373T=	NCBI36
NG_027529.1:g.44586A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1787A=	ENSP00000461912.2:n.*1787A=
ENST00000703106.1:c.1756A=	ENSP00000515173.1:n.1756A=
ENST00000703107.1:c.*1640A=	ENSP00000515174.1:n.*1640A=
ENST00000703108.1:c.*159A=	ENSP00000515175.1:n.*159A=
ENST00000703109.1:c.1744A=	ENSP00000515176.1:p.Ser582=
ENST00000703110.1:c.*1213A=	ENSP00000515177.1:n.*1213A=
ENST00000703111.1:n.1718A=
ENST00000703112.1:n.2484A=
ENST00000703113.1:c.*1124A=	ENSP00000515178.1:n.*1124A=
ENST00000703114.1:c.*360A=	ENSP00000515179.1:n.*360A=
ENST00000703115.1:c.824A=	ENSP00000515180.1:n.824A=
ENST00000323786.10:c.1711A= MANE Select	ENSP00000315775.5:p.Ser571=
ENST00000564415.6:c.*1491A=	ENSP00000456653.2:n.*1491A=
ENST00000674443.1:c.1636A=	ENSP00000501405.1:p.Ser546=
ENST00000323786.9:c.1711A=	ENSP00000315775.5:p.Ser571=
ENST00000393612.8:c.1648A=	ENSP00000377236.5:p.Ser550=
ENST00000482252.5:c.1858A=	ENSP00000432802.1:n.1858A=
ENST00000526700.5:n.887A=
ENST00000530314.5:n.2390A=
ENST00000564315.1:n.171A=
ENST00000564415.5:c.*1491A=	ENSP00000456653.1:n.*1491A=
NM_001195139.1:c.1648A=	NP_001182068.1:p.Ser550=
NM_015386.2:c.1711A=	NP_056201.2:p.Ser571=
XM_011522981.1:c.1285A=	XP_011521283.1:p.Ser429=
XR_933266.1:n.1657A=
XR_933267.1:n.1657A=
XM_011522981.3:c.1285A=	XP_011521283.1:p.Ser429=
XM_024450224.1:c.730A=	XP_024305992.1:p.Ser244=
XR_001751889.1:n.1594A=
XR_933266.2:n.1657A=
NM_015386.3:c.1711A= MANE Select	NP_056201.2:p.Ser571=
NM_001195139.2:c.1636A=	NP_001182068.2:p.Ser546=
NM_001365426.1:c.1285A=	NP_001352355.1:p.Ser429=
NR_158212.1:n.1670A=