Canonical Allele Identifier: CA396578144

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515317A>C (hg19) ; chr16:g.70481414A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481414A>C , CM000678.2:g.70481414A>C	GRCh38
NC_000016.9:g.70515317A>C , CM000678.1:g.70515317A>C	GRCh37
NC_000016.8:g.69072818A>C	NCBI36
NG_027529.1:g.47141T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2256T>G	ENSP00000461912.2:n.*2256T>G
ENST00000703106.1:c.2225T>G	ENSP00000515173.1:n.2225T>G
ENST00000703107.1:c.*2109T>G	ENSP00000515174.1:n.*2109T>G
ENST00000703108.1:c.*628T>G	ENSP00000515175.1:n.*628T>G
ENST00000703109.1:c.2213T>G	ENSP00000515176.1:p.Ile738Ser
ENST00000703110.1:c.*1682T>G	ENSP00000515177.1:n.*1682T>G
ENST00000703111.1:n.2463T>G
ENST00000703112.1:n.3124T>G
ENST00000703113.1:c.*1593T>G	ENSP00000515178.1:n.*1593T>G
ENST00000703114.1:c.*829T>G	ENSP00000515179.1:n.*829T>G
ENST00000703115.1:c.1293T>G	ENSP00000515180.1:n.1293T>G
ENST00000323786.10:c.2180T>G MANE Select	ENSP00000315775.5:p.Ile727Ser
ENST00000564415.6:c.*1960T>G	ENSP00000456653.2:n.*1960T>G
ENST00000674443.1:c.2105T>G	ENSP00000501405.1:p.Ile702Ser
ENST00000323786.9:c.2180T>G	ENSP00000315775.5:p.Ile727Ser
ENST00000393612.8:c.2117T>G	ENSP00000377236.5:p.Ile706Ser
ENST00000482252.5:c.2327T>G	ENSP00000432802.1:n.2327T>G
ENST00000526700.5:n.1356T>G
ENST00000530314.5:n.2859T>G
ENST00000564415.5:c.*1960T>G	ENSP00000456653.1:n.*1960T>G
ENST00000565715.1:c.242T>G	ENSP00000455693.1:p.Ile81Ser
NM_001195139.1:c.2117T>G	NP_001182068.1:p.Ile706Ser
NM_015386.2:c.2180T>G	NP_056201.2:p.Ile727Ser
XM_011522981.1:c.1754T>G	XP_011521283.1:p.Ile585Ser
XM_011522981.3:c.1754T>G	XP_011521283.1:p.Ile585Ser
XM_024450224.1:c.1199T>G	XP_024305992.1:p.Ile400Ser
XR_933266.2:n.2126T>G
NM_015386.3:c.2180T>G MANE Select	NP_056201.2:p.Ile727Ser
NM_001195139.2:c.2105T>G	NP_001182068.2:p.Ile702Ser
NM_001365426.1:c.1754T>G	NP_001352355.1:p.Ile585Ser
NR_158212.1:n.2139T>G