Canonical Allele Identifier: CA396578628

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515387C>A (hg19) ; chr16:g.70481484C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481484C>A , CM000678.2:g.70481484C>A	GRCh38
NC_000016.9:g.70515387C>A , CM000678.1:g.70515387C>A	GRCh37
NC_000016.8:g.69072888C>A	NCBI36
NG_027529.1:g.47071G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2186G>T	ENSP00000461912.2:n.*2186G>T
ENST00000703106.1:c.2155G>T	ENSP00000515173.1:n.2155G>T
ENST00000703107.1:c.*2039G>T	ENSP00000515174.1:n.*2039G>T
ENST00000703108.1:c.*558G>T	ENSP00000515175.1:n.*558G>T
ENST00000703109.1:c.2143G>T	ENSP00000515176.1:p.Gly715Cys
ENST00000703110.1:c.*1612G>T	ENSP00000515177.1:n.*1612G>T
ENST00000703111.1:n.2393G>T
ENST00000703112.1:n.3054G>T
ENST00000703113.1:c.*1523G>T	ENSP00000515178.1:n.*1523G>T
ENST00000703114.1:c.*759G>T	ENSP00000515179.1:n.*759G>T
ENST00000703115.1:c.1223G>T	ENSP00000515180.1:n.1223G>T
ENST00000323786.10:c.2110G>T MANE Select	ENSP00000315775.5:p.Gly704Cys
ENST00000564415.6:c.*1890G>T	ENSP00000456653.2:n.*1890G>T
ENST00000674443.1:c.2035G>T	ENSP00000501405.1:p.Gly679Cys
ENST00000323786.9:c.2110G>T	ENSP00000315775.5:p.Gly704Cys
ENST00000393612.8:c.2047G>T	ENSP00000377236.5:p.Gly683Cys
ENST00000482252.5:c.2257G>T	ENSP00000432802.1:n.2257G>T
ENST00000526700.5:n.1286G>T
ENST00000530314.5:n.2789G>T
ENST00000564415.5:c.*1890G>T	ENSP00000456653.1:n.*1890G>T
ENST00000565715.1:c.172G>T	ENSP00000455693.1:p.Gly58Cys
NM_001195139.1:c.2047G>T	NP_001182068.1:p.Gly683Cys
NM_015386.2:c.2110G>T	NP_056201.2:p.Gly704Cys
XM_011522981.1:c.1684G>T	XP_011521283.1:p.Gly562Cys
XM_011522981.3:c.1684G>T	XP_011521283.1:p.Gly562Cys
XM_024450224.1:c.1129G>T	XP_024305992.1:p.Gly377Cys
XR_001751889.1:n.1993G>T
XR_933266.2:n.2056G>T
NM_015386.3:c.2110G>T MANE Select	NP_056201.2:p.Gly704Cys
NM_001195139.2:c.2035G>T	NP_001182068.2:p.Gly679Cys
NM_001365426.1:c.1684G>T	NP_001352355.1:p.Gly562Cys
NR_158212.1:n.2069G>T