Canonical Allele Identifier: CA396578211

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515326G>C (hg19) ; chr16:g.70481423G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481423G>C , CM000678.2:g.70481423G>C	GRCh38
NC_000016.9:g.70515326G>C , CM000678.1:g.70515326G>C	GRCh37
NC_000016.8:g.69072827G>C	NCBI36
NG_027529.1:g.47132C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2247C>G	ENSP00000461912.2:n.*2247C>G
ENST00000703106.1:c.2216C>G	ENSP00000515173.1:n.2216C>G
ENST00000703107.1:c.*2100C>G	ENSP00000515174.1:n.*2100C>G
ENST00000703108.1:c.*619C>G	ENSP00000515175.1:n.*619C>G
ENST00000703109.1:c.2204C>G	ENSP00000515176.1:p.Thr735Ser
ENST00000703110.1:c.*1673C>G	ENSP00000515177.1:n.*1673C>G
ENST00000703111.1:n.2454C>G
ENST00000703112.1:n.3115C>G
ENST00000703113.1:c.*1584C>G	ENSP00000515178.1:n.*1584C>G
ENST00000703114.1:c.*820C>G	ENSP00000515179.1:n.*820C>G
ENST00000703115.1:c.1284C>G	ENSP00000515180.1:n.1284C>G
ENST00000323786.10:c.2171C>G MANE Select	ENSP00000315775.5:p.Thr724Ser
ENST00000564415.6:c.*1951C>G	ENSP00000456653.2:n.*1951C>G
ENST00000674443.1:c.2096C>G	ENSP00000501405.1:p.Thr699Ser
ENST00000323786.9:c.2171C>G	ENSP00000315775.5:p.Thr724Ser
ENST00000393612.8:c.2108C>G	ENSP00000377236.5:p.Thr703Ser
ENST00000482252.5:c.2318C>G	ENSP00000432802.1:n.2318C>G
ENST00000526700.5:n.1347C>G
ENST00000530314.5:n.2850C>G
ENST00000564415.5:c.*1951C>G	ENSP00000456653.1:n.*1951C>G
ENST00000565715.1:c.233C>G	ENSP00000455693.1:p.Thr78Ser
NM_001195139.1:c.2108C>G	NP_001182068.1:p.Thr703Ser
NM_015386.2:c.2171C>G	NP_056201.2:p.Thr724Ser
XM_011522981.1:c.1745C>G	XP_011521283.1:p.Thr582Ser
XM_011522981.3:c.1745C>G	XP_011521283.1:p.Thr582Ser
XM_024450224.1:c.1190C>G	XP_024305992.1:p.Thr397Ser
XR_933266.2:n.2117C>G
NM_015386.3:c.2171C>G MANE Select	NP_056201.2:p.Thr724Ser
NM_001195139.2:c.2096C>G	NP_001182068.2:p.Thr699Ser
NM_001365426.1:c.1745C>G	NP_001352355.1:p.Thr582Ser
NR_158212.1:n.2130C>G