Canonical Allele Identifier: CA396580638

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517787G>C (hg19) ; chr16:g.70483884G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483884G>C , CM000678.2:g.70483884G>C	GRCh38
NC_000016.9:g.70517787G>C , CM000678.1:g.70517787G>C	GRCh37
NC_000016.8:g.69075288G>C	NCBI36
NG_027529.1:g.44671C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1872C>G	ENSP00000461912.2:n.*1872C>G
ENST00000703106.1:c.1841C>G	ENSP00000515173.1:n.1841C>G
ENST00000703107.1:c.*1725C>G	ENSP00000515174.1:n.*1725C>G
ENST00000703108.1:c.*244C>G	ENSP00000515175.1:n.*244C>G
ENST00000703109.1:c.1829C>G	ENSP00000515176.1:p.Ala610Gly
ENST00000703110.1:c.*1298C>G	ENSP00000515177.1:n.*1298C>G
ENST00000703111.1:n.1803C>G
ENST00000703112.1:n.2569C>G
ENST00000703113.1:c.*1209C>G	ENSP00000515178.1:n.*1209C>G
ENST00000703114.1:c.*445C>G	ENSP00000515179.1:n.*445C>G
ENST00000703115.1:c.909C>G	ENSP00000515180.1:n.909C>G
ENST00000323786.10:c.1796C>G MANE Select	ENSP00000315775.5:p.Ala599Gly
ENST00000564415.6:c.*1576C>G	ENSP00000456653.2:n.*1576C>G
ENST00000674443.1:c.1721C>G	ENSP00000501405.1:p.Ala574Gly
ENST00000323786.9:c.1796C>G	ENSP00000315775.5:p.Ala599Gly
ENST00000393612.8:c.1733C>G	ENSP00000377236.5:p.Ala578Gly
ENST00000482252.5:c.1943C>G	ENSP00000432802.1:n.1943C>G
ENST00000526700.5:n.972C>G
ENST00000530314.5:n.2475C>G
ENST00000564315.1:n.256C>G
ENST00000564415.5:c.*1576C>G	ENSP00000456653.1:n.*1576C>G
NM_001195139.1:c.1733C>G	NP_001182068.1:p.Ala578Gly
NM_015386.2:c.1796C>G	NP_056201.2:p.Ala599Gly
XM_011522981.1:c.1370C>G	XP_011521283.1:p.Ala457Gly
XR_933266.1:n.1742C>G
XR_933267.1:n.1742C>G
XM_011522981.3:c.1370C>G	XP_011521283.1:p.Ala457Gly
XM_024450224.1:c.815C>G	XP_024305992.1:p.Ala272Gly
XR_001751889.1:n.1679C>G
XR_933266.2:n.1742C>G
NM_015386.3:c.1796C>G MANE Select	NP_056201.2:p.Ala599Gly
NM_001195139.2:c.1721C>G	NP_001182068.2:p.Ala574Gly
NM_001365426.1:c.1370C>G	NP_001352355.1:p.Ala457Gly
NR_158212.1:n.1755C>G