Canonical Allele Identifier: CA396580667

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517800A>C (hg19) ; chr16:g.70483897A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483897A>C , CM000678.2:g.70483897A>C	GRCh38
NC_000016.9:g.70517800A>C , CM000678.1:g.70517800A>C	GRCh37
NC_000016.8:g.69075301A>C	NCBI36
NG_027529.1:g.44658T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1859T>G	ENSP00000461912.2:n.*1859T>G
ENST00000703106.1:c.1828T>G	ENSP00000515173.1:n.1828T>G
ENST00000703107.1:c.*1712T>G	ENSP00000515174.1:n.*1712T>G
ENST00000703108.1:c.*231T>G	ENSP00000515175.1:n.*231T>G
ENST00000703109.1:c.1816T>G	ENSP00000515176.1:p.Ser606Ala
ENST00000703110.1:c.*1285T>G	ENSP00000515177.1:n.*1285T>G
ENST00000703111.1:n.1790T>G
ENST00000703112.1:n.2556T>G
ENST00000703113.1:c.*1196T>G	ENSP00000515178.1:n.*1196T>G
ENST00000703114.1:c.*432T>G	ENSP00000515179.1:n.*432T>G
ENST00000703115.1:c.896T>G	ENSP00000515180.1:n.896T>G
ENST00000323786.10:c.1783T>G MANE Select	ENSP00000315775.5:p.Ser595Ala
ENST00000564415.6:c.*1563T>G	ENSP00000456653.2:n.*1563T>G
ENST00000674443.1:c.1708T>G	ENSP00000501405.1:p.Ser570Ala
ENST00000323786.9:c.1783T>G	ENSP00000315775.5:p.Ser595Ala
ENST00000393612.8:c.1720T>G	ENSP00000377236.5:p.Ser574Ala
ENST00000482252.5:c.1930T>G	ENSP00000432802.1:n.1930T>G
ENST00000526700.5:n.959T>G
ENST00000530314.5:n.2462T>G
ENST00000564315.1:n.243T>G
ENST00000564415.5:c.*1563T>G	ENSP00000456653.1:n.*1563T>G
NM_001195139.1:c.1720T>G	NP_001182068.1:p.Ser574Ala
NM_015386.2:c.1783T>G	NP_056201.2:p.Ser595Ala
XM_011522981.1:c.1357T>G	XP_011521283.1:p.Ser453Ala
XR_933266.1:n.1729T>G
XR_933267.1:n.1729T>G
XM_011522981.3:c.1357T>G	XP_011521283.1:p.Ser453Ala
XM_024450224.1:c.802T>G	XP_024305992.1:p.Ser268Ala
XR_001751889.1:n.1666T>G
XR_933266.2:n.1729T>G
NM_015386.3:c.1783T>G MANE Select	NP_056201.2:p.Ser595Ala
NM_001195139.2:c.1708T>G	NP_001182068.2:p.Ser570Ala
NM_001365426.1:c.1357T>G	NP_001352355.1:p.Ser453Ala
NR_158212.1:n.1742T>G