Canonical Allele Identifier: CA2230785024

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481444G= , CM000678.2:g.70481444G=	GRCh38
NC_000016.9:g.70515347G= , CM000678.1:g.70515347G=	GRCh37
NC_000016.8:g.69072848G=	NCBI36
NG_027529.1:g.47111C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2226C=	ENSP00000461912.2:n.*2226C=
ENST00000703106.1:c.2195C=	ENSP00000515173.1:n.2195C=
ENST00000703107.1:c.*2079C=	ENSP00000515174.1:n.*2079C=
ENST00000703108.1:c.*598C=	ENSP00000515175.1:n.*598C=
ENST00000703109.1:c.2183C=	ENSP00000515176.1:p.Ala728=
ENST00000703110.1:c.*1652C=	ENSP00000515177.1:n.*1652C=
ENST00000703111.1:n.2433C=
ENST00000703112.1:n.3094C=
ENST00000703113.1:c.*1563C=	ENSP00000515178.1:n.*1563C=
ENST00000703114.1:c.*799C=	ENSP00000515179.1:n.*799C=
ENST00000703115.1:c.1263C=	ENSP00000515180.1:n.1263C=
ENST00000323786.10:c.2150C= MANE Select	ENSP00000315775.5:p.Ala717=
ENST00000564415.6:c.*1930C=	ENSP00000456653.2:n.*1930C=
ENST00000674443.1:c.2075C=	ENSP00000501405.1:p.Ala692=
ENST00000323786.9:c.2150C=	ENSP00000315775.5:p.Ala717=
ENST00000393612.8:c.2087C=	ENSP00000377236.5:p.Ala696=
ENST00000482252.5:c.2297C=	ENSP00000432802.1:n.2297C=
ENST00000526700.5:n.1326C=
ENST00000530314.5:n.2829C=
ENST00000564415.5:c.*1930C=	ENSP00000456653.1:n.*1930C=
ENST00000565715.1:c.212C=	ENSP00000455693.1:p.Ala71=
NM_001195139.1:c.2087C=	NP_001182068.1:p.Ala696=
NM_015386.2:c.2150C=	NP_056201.2:p.Ala717=
XM_011522981.1:c.1724C=	XP_011521283.1:p.Ala575=
XM_011522981.3:c.1724C=	XP_011521283.1:p.Ala575=
XM_024450224.1:c.1169C=	XP_024305992.1:p.Ala390=
XR_933266.2:n.2096C=
NM_015386.3:c.2150C= MANE Select	NP_056201.2:p.Ala717=
NM_001195139.2:c.2075C=	NP_001182068.2:p.Ala692=
NM_001365426.1:c.1724C=	NP_001352355.1:p.Ala575=
NR_158212.1:n.2109C=