Canonical Allele Identifier: CA2230785027

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481450A= , CM000678.2:g.70481450A=	GRCh38
NC_000016.9:g.70515353A= , CM000678.1:g.70515353A=	GRCh37
NC_000016.8:g.69072854A=	NCBI36
NG_027529.1:g.47105T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2220T=	ENSP00000461912.2:n.*2220T=
ENST00000703106.1:c.2189T=	ENSP00000515173.1:n.2189T=
ENST00000703107.1:c.*2073T=	ENSP00000515174.1:n.*2073T=
ENST00000703108.1:c.*592T=	ENSP00000515175.1:n.*592T=
ENST00000703109.1:c.2177T=	ENSP00000515176.1:p.Leu726=
ENST00000703110.1:c.*1646T=	ENSP00000515177.1:n.*1646T=
ENST00000703111.1:n.2427T=
ENST00000703112.1:n.3088T=
ENST00000703113.1:c.*1557T=	ENSP00000515178.1:n.*1557T=
ENST00000703114.1:c.*793T=	ENSP00000515179.1:n.*793T=
ENST00000703115.1:c.1257T=	ENSP00000515180.1:n.1257T=
ENST00000323786.10:c.2144T= MANE Select	ENSP00000315775.5:p.Leu715=
ENST00000564415.6:c.*1924T=	ENSP00000456653.2:n.*1924T=
ENST00000674443.1:c.2069T=	ENSP00000501405.1:p.Leu690=
ENST00000323786.9:c.2144T=	ENSP00000315775.5:p.Leu715=
ENST00000393612.8:c.2081T=	ENSP00000377236.5:p.Leu694=
ENST00000482252.5:c.2291T=	ENSP00000432802.1:n.2291T=
ENST00000526700.5:n.1320T=
ENST00000530314.5:n.2823T=
ENST00000564415.5:c.*1924T=	ENSP00000456653.1:n.*1924T=
ENST00000565715.1:c.206T=	ENSP00000455693.1:p.Leu69=
NM_001195139.1:c.2081T=	NP_001182068.1:p.Leu694=
NM_015386.2:c.2144T=	NP_056201.2:p.Leu715=
XM_011522981.1:c.1718T=	XP_011521283.1:p.Leu573=
XM_011522981.3:c.1718T=	XP_011521283.1:p.Leu573=
XM_024450224.1:c.1163T=	XP_024305992.1:p.Leu388=
XR_933266.2:n.2090T=
NM_015386.3:c.2144T= MANE Select	NP_056201.2:p.Leu715=
NM_001195139.2:c.2069T=	NP_001182068.2:p.Leu690=
NM_001365426.1:c.1718T=	NP_001352355.1:p.Leu573=
NR_158212.1:n.2103T=