Canonical Allele Identifier: CA2230762895

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483898A= , CM000678.2:g.70483898A=	GRCh38
NC_000016.9:g.70517801A= , CM000678.1:g.70517801A=	GRCh37
NC_000016.8:g.69075302A=	NCBI36
NG_027529.1:g.44657T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1858T=	ENSP00000461912.2:n.*1858T=
ENST00000703106.1:c.1827T=	ENSP00000515173.1:n.1827T=
ENST00000703107.1:c.*1711T=	ENSP00000515174.1:n.*1711T=
ENST00000703108.1:c.*230T=	ENSP00000515175.1:n.*230T=
ENST00000703109.1:c.1815T=	ENSP00000515176.1:p.Leu605=
ENST00000703110.1:c.*1284T=	ENSP00000515177.1:n.*1284T=
ENST00000703111.1:n.1789T=
ENST00000703112.1:n.2555T=
ENST00000703113.1:c.*1195T=	ENSP00000515178.1:n.*1195T=
ENST00000703114.1:c.*431T=	ENSP00000515179.1:n.*431T=
ENST00000703115.1:c.895T=	ENSP00000515180.1:n.895T=
ENST00000323786.10:c.1782T= MANE Select	ENSP00000315775.5:p.Leu594=
ENST00000564415.6:c.*1562T=	ENSP00000456653.2:n.*1562T=
ENST00000674443.1:c.1707T=	ENSP00000501405.1:p.Leu569=
ENST00000323786.9:c.1782T=	ENSP00000315775.5:p.Leu594=
ENST00000393612.8:c.1719T=	ENSP00000377236.5:p.Leu573=
ENST00000482252.5:c.1929T=	ENSP00000432802.1:n.1929T=
ENST00000526700.5:n.958T=
ENST00000530314.5:n.2461T=
ENST00000564315.1:n.242T=
ENST00000564415.5:c.*1562T=	ENSP00000456653.1:n.*1562T=
NM_001195139.1:c.1719T=	NP_001182068.1:p.Leu573=
NM_015386.2:c.1782T=	NP_056201.2:p.Leu594=
XM_011522981.1:c.1356T=	XP_011521283.1:p.Leu452=
XR_933266.1:n.1728T=
XR_933267.1:n.1728T=
XM_011522981.3:c.1356T=	XP_011521283.1:p.Leu452=
XM_024450224.1:c.801T=	XP_024305992.1:p.Leu267=
XR_001751889.1:n.1665T=
XR_933266.2:n.1728T=
NM_015386.3:c.1782T= MANE Select	NP_056201.2:p.Leu594=
NM_001195139.2:c.1707T=	NP_001182068.2:p.Leu569=
NM_001365426.1:c.1356T=	NP_001352355.1:p.Leu452=
NR_158212.1:n.1741T=