Canonical Allele Identifier: CA2230785035

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481474T= , CM000678.2:g.70481474T=	GRCh38
NC_000016.9:g.70515377T= , CM000678.1:g.70515377T=	GRCh37
NC_000016.8:g.69072878T=	NCBI36
NG_027529.1:g.47081A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2196A=	ENSP00000461912.2:n.*2196A=
ENST00000703106.1:c.2165A=	ENSP00000515173.1:n.2165A=
ENST00000703107.1:c.*2049A=	ENSP00000515174.1:n.*2049A=
ENST00000703108.1:c.*568A=	ENSP00000515175.1:n.*568A=
ENST00000703109.1:c.2153A=	ENSP00000515176.1:p.Gln718=
ENST00000703110.1:c.*1622A=	ENSP00000515177.1:n.*1622A=
ENST00000703111.1:n.2403A=
ENST00000703112.1:n.3064A=
ENST00000703113.1:c.*1533A=	ENSP00000515178.1:n.*1533A=
ENST00000703114.1:c.*769A=	ENSP00000515179.1:n.*769A=
ENST00000703115.1:c.1233A=	ENSP00000515180.1:n.1233A=
ENST00000323786.10:c.2120A= MANE Select	ENSP00000315775.5:p.Gln707=
ENST00000564415.6:c.*1900A=	ENSP00000456653.2:n.*1900A=
ENST00000674443.1:c.2045A=	ENSP00000501405.1:p.Gln682=
ENST00000323786.9:c.2120A=	ENSP00000315775.5:p.Gln707=
ENST00000393612.8:c.2057A=	ENSP00000377236.5:p.Gln686=
ENST00000482252.5:c.2267A=	ENSP00000432802.1:n.2267A=
ENST00000526700.5:n.1296A=
ENST00000530314.5:n.2799A=
ENST00000564415.5:c.*1900A=	ENSP00000456653.1:n.*1900A=
ENST00000565715.1:c.182A=	ENSP00000455693.1:p.Gln61=
NM_001195139.1:c.2057A=	NP_001182068.1:p.Gln686=
NM_015386.2:c.2120A=	NP_056201.2:p.Gln707=
XM_011522981.1:c.1694A=	XP_011521283.1:p.Gln565=
XM_011522981.3:c.1694A=	XP_011521283.1:p.Gln565=
XM_024450224.1:c.1139A=	XP_024305992.1:p.Gln380=
XR_001751889.1:n.2003A=
XR_933266.2:n.2066A=
NM_015386.3:c.2120A= MANE Select	NP_056201.2:p.Gln707=
NM_001195139.2:c.2045A=	NP_001182068.2:p.Gln682=
NM_001365426.1:c.1694A=	NP_001352355.1:p.Gln565=
NR_158212.1:n.2079A=