Canonical Allele Identifier: CA396580665

Gene: COG4

Linked Data

• dbSNP Id: rs1424470097
• MyVariant Identifiers: chr16:g.70517799G>C (hg19) ; chr16:g.70483896G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483896G>C , CM000678.2:g.70483896G>C	GRCh38
NC_000016.9:g.70517799G>C , CM000678.1:g.70517799G>C	GRCh37
NC_000016.8:g.69075300G>C	NCBI36
NG_027529.1:g.44659C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1860C>G	ENSP00000461912.2:n.*1860C>G
ENST00000703106.1:c.1829C>G	ENSP00000515173.1:n.1829C>G
ENST00000703107.1:c.*1713C>G	ENSP00000515174.1:n.*1713C>G
ENST00000703108.1:c.*232C>G	ENSP00000515175.1:n.*232C>G
ENST00000703109.1:c.1817C>G	ENSP00000515176.1:p.Ser606Cys
ENST00000703110.1:c.*1286C>G	ENSP00000515177.1:n.*1286C>G
ENST00000703111.1:n.1791C>G
ENST00000703112.1:n.2557C>G
ENST00000703113.1:c.*1197C>G	ENSP00000515178.1:n.*1197C>G
ENST00000703114.1:c.*433C>G	ENSP00000515179.1:n.*433C>G
ENST00000703115.1:c.897C>G	ENSP00000515180.1:n.897C>G
ENST00000323786.10:c.1784C>G MANE Select	ENSP00000315775.5:p.Ser595Cys
ENST00000564415.6:c.*1564C>G	ENSP00000456653.2:n.*1564C>G
ENST00000674443.1:c.1709C>G	ENSP00000501405.1:p.Ser570Cys
ENST00000323786.9:c.1784C>G	ENSP00000315775.5:p.Ser595Cys
ENST00000393612.8:c.1721C>G	ENSP00000377236.5:p.Ser574Cys
ENST00000482252.5:c.1931C>G	ENSP00000432802.1:n.1931C>G
ENST00000526700.5:n.960C>G
ENST00000530314.5:n.2463C>G
ENST00000564315.1:n.244C>G
ENST00000564415.5:c.*1564C>G	ENSP00000456653.1:n.*1564C>G
NM_001195139.1:c.1721C>G	NP_001182068.1:p.Ser574Cys
NM_015386.2:c.1784C>G	NP_056201.2:p.Ser595Cys
XM_011522981.1:c.1358C>G	XP_011521283.1:p.Ser453Cys
XR_933266.1:n.1730C>G
XR_933267.1:n.1730C>G
XM_011522981.3:c.1358C>G	XP_011521283.1:p.Ser453Cys
XM_024450224.1:c.803C>G	XP_024305992.1:p.Ser268Cys
XR_001751889.1:n.1667C>G
XR_933266.2:n.1730C>G
NM_015386.3:c.1784C>G MANE Select	NP_056201.2:p.Ser595Cys
NM_001195139.2:c.1709C>G	NP_001182068.2:p.Ser570Cys
NM_001365426.1:c.1358C>G	NP_001352355.1:p.Ser453Cys
NR_158212.1:n.1743C>G