Canonical Allele Identifier: CA396578416

Gene: COG4

Linked Data

• ClinVar Variation Id: 1016153
• ClinVar RCV Id: RCV001315117
• dbSNP Id: rs751809847
• MyVariant Identifiers: chr16:g.70515356G>C (hg19) ; chr16:g.70481453G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481453G>C , CM000678.2:g.70481453G>C	GRCh38
NC_000016.9:g.70515356G>C , CM000678.1:g.70515356G>C	GRCh37
NC_000016.8:g.69072857G>C	NCBI36
NG_027529.1:g.47102C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2217C>G	ENSP00000461912.2:n.*2217C>G
ENST00000703106.1:c.2186C>G	ENSP00000515173.1:n.2186C>G
ENST00000703107.1:c.*2070C>G	ENSP00000515174.1:n.*2070C>G
ENST00000703108.1:c.*589C>G	ENSP00000515175.1:n.*589C>G
ENST00000703109.1:c.2174C>G	ENSP00000515176.1:p.Ser725Trp
ENST00000703110.1:c.*1643C>G	ENSP00000515177.1:n.*1643C>G
ENST00000703111.1:n.2424C>G
ENST00000703112.1:n.3085C>G
ENST00000703113.1:c.*1554C>G	ENSP00000515178.1:n.*1554C>G
ENST00000703114.1:c.*790C>G	ENSP00000515179.1:n.*790C>G
ENST00000703115.1:c.1254C>G	ENSP00000515180.1:n.1254C>G
ENST00000323786.10:c.2141C>G MANE Select	ENSP00000315775.5:p.Ser714Trp
ENST00000564415.6:c.*1921C>G	ENSP00000456653.2:n.*1921C>G
ENST00000674443.1:c.2066C>G	ENSP00000501405.1:p.Ser689Trp
ENST00000323786.9:c.2141C>G	ENSP00000315775.5:p.Ser714Trp
ENST00000393612.8:c.2078C>G	ENSP00000377236.5:p.Ser693Trp
ENST00000482252.5:c.2288C>G	ENSP00000432802.1:n.2288C>G
ENST00000526700.5:n.1317C>G
ENST00000530314.5:n.2820C>G
ENST00000564415.5:c.*1921C>G	ENSP00000456653.1:n.*1921C>G
ENST00000565715.1:c.203C>G	ENSP00000455693.1:p.Ser68Trp
NM_001195139.1:c.2078C>G	NP_001182068.1:p.Ser693Trp
NM_015386.2:c.2141C>G	NP_056201.2:p.Ser714Trp
XM_011522981.1:c.1715C>G	XP_011521283.1:p.Ser572Trp
XM_011522981.3:c.1715C>G	XP_011521283.1:p.Ser572Trp
XM_024450224.1:c.1160C>G	XP_024305992.1:p.Ser387Trp
XR_933266.2:n.2087C>G
NM_015386.3:c.2141C>G MANE Select	NP_056201.2:p.Ser714Trp
NM_001195139.2:c.2066C>G	NP_001182068.2:p.Ser689Trp
NM_001365426.1:c.1715C>G	NP_001352355.1:p.Ser572Trp
NR_158212.1:n.2100C>G