Canonical Allele Identifier: CA496228742

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517834C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483931C>G , CM000678.2:g.70483931C>G	GRCh38
NC_000016.9:g.70517834C>G , CM000678.1:g.70517834C>G	GRCh37
NC_000016.8:g.69075335C>G	NCBI36
NG_027529.1:g.44624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1825G>C	ENSP00000461912.2:n.*1825G>C
ENST00000703106.1:c.1794G>C	ENSP00000515173.1:n.1794G>C
ENST00000703107.1:c.*1678G>C	ENSP00000515174.1:n.*1678G>C
ENST00000703108.1:c.*197G>C	ENSP00000515175.1:n.*197G>C
ENST00000703109.1:c.1782G>C	ENSP00000515176.1:p.Gly594=
ENST00000703110.1:c.*1251G>C	ENSP00000515177.1:n.*1251G>C
ENST00000703111.1:n.1756G>C
ENST00000703112.1:n.2522G>C
ENST00000703113.1:c.*1162G>C	ENSP00000515178.1:n.*1162G>C
ENST00000703114.1:c.*398G>C	ENSP00000515179.1:n.*398G>C
ENST00000703115.1:c.862G>C	ENSP00000515180.1:n.862G>C
ENST00000323786.10:c.1749G>C MANE Select	ENSP00000315775.5:p.Gly583=
ENST00000564415.6:c.*1529G>C	ENSP00000456653.2:n.*1529G>C
ENST00000674443.1:c.1674G>C	ENSP00000501405.1:p.Gly558=
ENST00000323786.9:c.1749G>C	ENSP00000315775.5:p.Gly583=
ENST00000393612.8:c.1686G>C	ENSP00000377236.5:p.Gly562=
ENST00000482252.5:c.1896G>C	ENSP00000432802.1:n.1896G>C
ENST00000526700.5:n.925G>C
ENST00000530314.5:n.2428G>C
ENST00000564315.1:n.209G>C
ENST00000564415.5:c.*1529G>C	ENSP00000456653.1:n.*1529G>C
NM_001195139.1:c.1686G>C	NP_001182068.1:p.Gly562=
NM_015386.2:c.1749G>C	NP_056201.2:p.Gly583=
XM_011522981.1:c.1323G>C	XP_011521283.1:p.Gly441=
XR_933266.1:n.1695G>C
XR_933267.1:n.1695G>C
XM_011522981.3:c.1323G>C	XP_011521283.1:p.Gly441=
XM_024450224.1:c.768G>C	XP_024305992.1:p.Gly256=
XR_001751889.1:n.1632G>C
XR_933266.2:n.1695G>C
NM_015386.3:c.1749G>C MANE Select	NP_056201.2:p.Gly583=
NM_001195139.2:c.1674G>C	NP_001182068.2:p.Gly558=
NM_001365426.1:c.1323G>C	NP_001352355.1:p.Gly441=
NR_158212.1:n.1708G>C