Canonical Allele Identifier: CA2230785023

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481441T= , CM000678.2:g.70481441T=	GRCh38
NC_000016.9:g.70515344T= , CM000678.1:g.70515344T=	GRCh37
NC_000016.8:g.69072845T=	NCBI36
NG_027529.1:g.47114A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2229A=	ENSP00000461912.2:n.*2229A=
ENST00000703106.1:c.2198A=	ENSP00000515173.1:n.2198A=
ENST00000703107.1:c.*2082A=	ENSP00000515174.1:n.*2082A=
ENST00000703108.1:c.*601A=	ENSP00000515175.1:n.*601A=
ENST00000703109.1:c.2186A=	ENSP00000515176.1:p.Tyr729=
ENST00000703110.1:c.*1655A=	ENSP00000515177.1:n.*1655A=
ENST00000703111.1:n.2436A=
ENST00000703112.1:n.3097A=
ENST00000703113.1:c.*1566A=	ENSP00000515178.1:n.*1566A=
ENST00000703114.1:c.*802A=	ENSP00000515179.1:n.*802A=
ENST00000703115.1:c.1266A=	ENSP00000515180.1:n.1266A=
ENST00000323786.10:c.2153A= MANE Select	ENSP00000315775.5:p.Tyr718=
ENST00000564415.6:c.*1933A=	ENSP00000456653.2:n.*1933A=
ENST00000674443.1:c.2078A=	ENSP00000501405.1:p.Tyr693=
ENST00000323786.9:c.2153A=	ENSP00000315775.5:p.Tyr718=
ENST00000393612.8:c.2090A=	ENSP00000377236.5:p.Tyr697=
ENST00000482252.5:c.2300A=	ENSP00000432802.1:n.2300A=
ENST00000526700.5:n.1329A=
ENST00000530314.5:n.2832A=
ENST00000564415.5:c.*1933A=	ENSP00000456653.1:n.*1933A=
ENST00000565715.1:c.215A=	ENSP00000455693.1:p.Tyr72=
NM_001195139.1:c.2090A=	NP_001182068.1:p.Tyr697=
NM_015386.2:c.2153A=	NP_056201.2:p.Tyr718=
XM_011522981.1:c.1727A=	XP_011521283.1:p.Tyr576=
XM_011522981.3:c.1727A=	XP_011521283.1:p.Tyr576=
XM_024450224.1:c.1172A=	XP_024305992.1:p.Tyr391=
XR_933266.2:n.2099A=
NM_015386.3:c.2153A= MANE Select	NP_056201.2:p.Tyr718=
NM_001195139.2:c.2078A=	NP_001182068.2:p.Tyr693=
NM_001365426.1:c.1727A=	NP_001352355.1:p.Tyr576=
NR_158212.1:n.2112A=