Canonical Allele Identifier: CA2230785017

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481428C= , CM000678.2:g.70481428C=	GRCh38
NC_000016.9:g.70515331C= , CM000678.1:g.70515331C=	GRCh37
NC_000016.8:g.69072832C=	NCBI36
NG_027529.1:g.47127G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2242G=	ENSP00000461912.2:n.*2242G=
ENST00000703106.1:c.2211G=	ENSP00000515173.1:n.2211G=
ENST00000703107.1:c.*2095G=	ENSP00000515174.1:n.*2095G=
ENST00000703108.1:c.*614G=	ENSP00000515175.1:n.*614G=
ENST00000703109.1:c.2199G=	ENSP00000515176.1:p.Val733=
ENST00000703110.1:c.*1668G=	ENSP00000515177.1:n.*1668G=
ENST00000703111.1:n.2449G=
ENST00000703112.1:n.3110G=
ENST00000703113.1:c.*1579G=	ENSP00000515178.1:n.*1579G=
ENST00000703114.1:c.*815G=	ENSP00000515179.1:n.*815G=
ENST00000703115.1:c.1279G=	ENSP00000515180.1:n.1279G=
ENST00000323786.10:c.2166G= MANE Select	ENSP00000315775.5:p.Val722=
ENST00000564415.6:c.*1946G=	ENSP00000456653.2:n.*1946G=
ENST00000674443.1:c.2091G=	ENSP00000501405.1:p.Val697=
ENST00000323786.9:c.2166G=	ENSP00000315775.5:p.Val722=
ENST00000393612.8:c.2103G=	ENSP00000377236.5:p.Val701=
ENST00000482252.5:c.2313G=	ENSP00000432802.1:n.2313G=
ENST00000526700.5:n.1342G=
ENST00000530314.5:n.2845G=
ENST00000564415.5:c.*1946G=	ENSP00000456653.1:n.*1946G=
ENST00000565715.1:c.228G=	ENSP00000455693.1:p.Val76=
NM_001195139.1:c.2103G=	NP_001182068.1:p.Val701=
NM_015386.2:c.2166G=	NP_056201.2:p.Val722=
XM_011522981.1:c.1740G=	XP_011521283.1:p.Val580=
XM_011522981.3:c.1740G=	XP_011521283.1:p.Val580=
XM_024450224.1:c.1185G=	XP_024305992.1:p.Val395=
XR_933266.2:n.2112G=
NM_015386.3:c.2166G= MANE Select	NP_056201.2:p.Val722=
NM_001195139.2:c.2091G=	NP_001182068.2:p.Val697=
NM_001365426.1:c.1740G=	NP_001352355.1:p.Val580=
NR_158212.1:n.2125G=