Canonical Allele Identifier: CA2230762955

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483948T= , CM000678.2:g.70483948T=	GRCh38
NC_000016.9:g.70517851T= , CM000678.1:g.70517851T=	GRCh37
NC_000016.8:g.69075352T=	NCBI36
NG_027529.1:g.44607A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1808A=	ENSP00000461912.2:n.*1808A=
ENST00000703106.1:c.1777A=	ENSP00000515173.1:n.1777A=
ENST00000703107.1:c.*1661A=	ENSP00000515174.1:n.*1661A=
ENST00000703108.1:c.*180A=	ENSP00000515175.1:n.*180A=
ENST00000703109.1:c.1765A=	ENSP00000515176.1:p.Ser589=
ENST00000703110.1:c.*1234A=	ENSP00000515177.1:n.*1234A=
ENST00000703111.1:n.1739A=
ENST00000703112.1:n.2505A=
ENST00000703113.1:c.*1145A=	ENSP00000515178.1:n.*1145A=
ENST00000703114.1:c.*381A=	ENSP00000515179.1:n.*381A=
ENST00000703115.1:c.845A=	ENSP00000515180.1:n.845A=
ENST00000323786.10:c.1732A= MANE Select	ENSP00000315775.5:p.Ser578=
ENST00000564415.6:c.*1512A=	ENSP00000456653.2:n.*1512A=
ENST00000674443.1:c.1657A=	ENSP00000501405.1:p.Ser553=
ENST00000323786.9:c.1732A=	ENSP00000315775.5:p.Ser578=
ENST00000393612.8:c.1669A=	ENSP00000377236.5:p.Ser557=
ENST00000482252.5:c.1879A=	ENSP00000432802.1:n.1879A=
ENST00000526700.5:n.908A=
ENST00000530314.5:n.2411A=
ENST00000564315.1:n.192A=
ENST00000564415.5:c.*1512A=	ENSP00000456653.1:n.*1512A=
NM_001195139.1:c.1669A=	NP_001182068.1:p.Ser557=
NM_015386.2:c.1732A=	NP_056201.2:p.Ser578=
XM_011522981.1:c.1306A=	XP_011521283.1:p.Ser436=
XR_933266.1:n.1678A=
XR_933267.1:n.1678A=
XM_011522981.3:c.1306A=	XP_011521283.1:p.Ser436=
XM_024450224.1:c.751A=	XP_024305992.1:p.Ser251=
XR_001751889.1:n.1615A=
XR_933266.2:n.1678A=
NM_015386.3:c.1732A= MANE Select	NP_056201.2:p.Ser578=
NM_001195139.2:c.1657A=	NP_001182068.2:p.Ser553=
NM_001365426.1:c.1306A=	NP_001352355.1:p.Ser436=
NR_158212.1:n.1691A=