Canonical Allele Identifier: CA396580660

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517796T>A (hg19) ; chr16:g.70483893T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483893T>A , CM000678.2:g.70483893T>A	GRCh38
NC_000016.9:g.70517796T>A , CM000678.1:g.70517796T>A	GRCh37
NC_000016.8:g.69075297T>A	NCBI36
NG_027529.1:g.44662A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1863A>T	ENSP00000461912.2:n.*1863A>T
ENST00000703106.1:c.1832A>T	ENSP00000515173.1:n.1832A>T
ENST00000703107.1:c.*1716A>T	ENSP00000515174.1:n.*1716A>T
ENST00000703108.1:c.*235A>T	ENSP00000515175.1:n.*235A>T
ENST00000703109.1:c.1820A>T	ENSP00000515176.1:p.Asp607Val
ENST00000703110.1:c.*1289A>T	ENSP00000515177.1:n.*1289A>T
ENST00000703111.1:n.1794A>T
ENST00000703112.1:n.2560A>T
ENST00000703113.1:c.*1200A>T	ENSP00000515178.1:n.*1200A>T
ENST00000703114.1:c.*436A>T	ENSP00000515179.1:n.*436A>T
ENST00000703115.1:c.900A>T	ENSP00000515180.1:n.900A>T
ENST00000323786.10:c.1787A>T MANE Select	ENSP00000315775.5:p.Asp596Val
ENST00000564415.6:c.*1567A>T	ENSP00000456653.2:n.*1567A>T
ENST00000674443.1:c.1712A>T	ENSP00000501405.1:p.Asp571Val
ENST00000323786.9:c.1787A>T	ENSP00000315775.5:p.Asp596Val
ENST00000393612.8:c.1724A>T	ENSP00000377236.5:p.Asp575Val
ENST00000482252.5:c.1934A>T	ENSP00000432802.1:n.1934A>T
ENST00000526700.5:n.963A>T
ENST00000530314.5:n.2466A>T
ENST00000564315.1:n.247A>T
ENST00000564415.5:c.*1567A>T	ENSP00000456653.1:n.*1567A>T
NM_001195139.1:c.1724A>T	NP_001182068.1:p.Asp575Val
NM_015386.2:c.1787A>T	NP_056201.2:p.Asp596Val
XM_011522981.1:c.1361A>T	XP_011521283.1:p.Asp454Val
XR_933266.1:n.1733A>T
XR_933267.1:n.1733A>T
XM_011522981.3:c.1361A>T	XP_011521283.1:p.Asp454Val
XM_024450224.1:c.806A>T	XP_024305992.1:p.Asp269Val
XR_001751889.1:n.1670A>T
XR_933266.2:n.1733A>T
NM_015386.3:c.1787A>T MANE Select	NP_056201.2:p.Asp596Val
NM_001195139.2:c.1712A>T	NP_001182068.2:p.Asp571Val
NM_001365426.1:c.1361A>T	NP_001352355.1:p.Asp454Val
NR_158212.1:n.1746A>T