Canonical Allele Identifier: CA2230762958

Gene: COG4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483949G= , CM000678.2:g.70483949G=	GRCh38
NC_000016.9:g.70517852G= , CM000678.1:g.70517852G=	GRCh37
NC_000016.8:g.69075353G=	NCBI36
NG_027529.1:g.44606C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1807C=	ENSP00000461912.2:n.*1807C=
ENST00000703106.1:c.1776C=	ENSP00000515173.1:n.1776C=
ENST00000703107.1:c.*1660C=	ENSP00000515174.1:n.*1660C=
ENST00000703108.1:c.*179C=	ENSP00000515175.1:n.*179C=
ENST00000703109.1:c.1764C=	ENSP00000515176.1:p.Phe588=
ENST00000703110.1:c.*1233C=	ENSP00000515177.1:n.*1233C=
ENST00000703111.1:n.1738C=
ENST00000703112.1:n.2504C=
ENST00000703113.1:c.*1144C=	ENSP00000515178.1:n.*1144C=
ENST00000703114.1:c.*380C=	ENSP00000515179.1:n.*380C=
ENST00000703115.1:c.844C=	ENSP00000515180.1:n.844C=
ENST00000323786.10:c.1731C= MANE Select	ENSP00000315775.5:p.Phe577=
ENST00000564415.6:c.*1511C=	ENSP00000456653.2:n.*1511C=
ENST00000674443.1:c.1656C=	ENSP00000501405.1:p.Phe552=
ENST00000323786.9:c.1731C=	ENSP00000315775.5:p.Phe577=
ENST00000393612.8:c.1668C=	ENSP00000377236.5:p.Phe556=
ENST00000482252.5:c.1878C=	ENSP00000432802.1:n.1878C=
ENST00000526700.5:n.907C=
ENST00000530314.5:n.2410C=
ENST00000564315.1:n.191C=
ENST00000564415.5:c.*1511C=	ENSP00000456653.1:n.*1511C=
NM_001195139.1:c.1668C=	NP_001182068.1:p.Phe556=
NM_015386.2:c.1731C=	NP_056201.2:p.Phe577=
XM_011522981.1:c.1305C=	XP_011521283.1:p.Phe435=
XR_933266.1:n.1677C=
XR_933267.1:n.1677C=
XM_011522981.3:c.1305C=	XP_011521283.1:p.Phe435=
XM_024450224.1:c.750C=	XP_024305992.1:p.Phe250=
XR_001751889.1:n.1614C=
XR_933266.2:n.1677C=
NM_015386.3:c.1731C= MANE Select	NP_056201.2:p.Phe577=
NM_001195139.2:c.1656C=	NP_001182068.2:p.Phe552=
NM_001365426.1:c.1305C=	NP_001352355.1:p.Phe435=
NR_158212.1:n.1690C=