Canonical Allele Identifier: CA2230785005

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481403A= , CM000678.2:g.70481403A=	GRCh38
NC_000016.9:g.70515306A= , CM000678.1:g.70515306A=	GRCh37
NC_000016.8:g.69072807A=	NCBI36
NG_027529.1:g.47152T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2267T=	ENSP00000461912.2:n.*2267T=
ENST00000703106.1:c.2236T=	ENSP00000515173.1:n.2236T=
ENST00000703107.1:c.*2120T=	ENSP00000515174.1:n.*2120T=
ENST00000703108.1:c.*639T=	ENSP00000515175.1:n.*639T=
ENST00000703109.1:c.2224T=	ENSP00000515176.1:p.Phe742=
ENST00000703110.1:c.*1693T=	ENSP00000515177.1:n.*1693T=
ENST00000703111.1:n.2474T=
ENST00000703112.1:n.3135T=
ENST00000703113.1:c.*1604T=	ENSP00000515178.1:n.*1604T=
ENST00000703114.1:c.*840T=	ENSP00000515179.1:n.*840T=
ENST00000703115.1:c.1304T=	ENSP00000515180.1:n.1304T=
ENST00000323786.10:c.2191T= MANE Select	ENSP00000315775.5:p.Phe731=
ENST00000564415.6:c.*1971T=	ENSP00000456653.2:n.*1971T=
ENST00000674443.1:c.2116T=	ENSP00000501405.1:p.Phe706=
ENST00000323786.9:c.2191T=	ENSP00000315775.5:p.Phe731=
ENST00000393612.8:c.2128T=	ENSP00000377236.5:p.Phe710=
ENST00000482252.5:c.2338T=	ENSP00000432802.1:n.2338T=
ENST00000526700.5:n.1367T=
ENST00000530314.5:n.2870T=
ENST00000564415.5:c.*1971T=	ENSP00000456653.1:n.*1971T=
ENST00000565715.1:c.253T=	ENSP00000455693.1:p.Phe85=
NM_001195139.1:c.2128T=	NP_001182068.1:p.Phe710=
NM_015386.2:c.2191T=	NP_056201.2:p.Phe731=
XM_011522981.1:c.1765T=	XP_011521283.1:p.Phe589=
XM_011522981.3:c.1765T=	XP_011521283.1:p.Phe589=
XM_024450224.1:c.1210T=	XP_024305992.1:p.Phe404=
XR_933266.2:n.2137T=
NM_015386.3:c.2191T= MANE Select	NP_056201.2:p.Phe731=
NM_001195139.2:c.2116T=	NP_001182068.2:p.Phe706=
NM_001365426.1:c.1765T=	NP_001352355.1:p.Phe589=
NR_158212.1:n.2150T=