Canonical Allele Identifier: CA496227837

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515382A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481479A>C , CM000678.2:g.70481479A>C	GRCh38
NC_000016.9:g.70515382A>C , CM000678.1:g.70515382A>C	GRCh37
NC_000016.8:g.69072883A>C	NCBI36
NG_027529.1:g.47076T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2191T>G	ENSP00000461912.2:n.*2191T>G
ENST00000703106.1:c.2160T>G	ENSP00000515173.1:n.2160T>G
ENST00000703107.1:c.*2044T>G	ENSP00000515174.1:n.*2044T>G
ENST00000703108.1:c.*563T>G	ENSP00000515175.1:n.*563T>G
ENST00000703109.1:c.2148T>G	ENSP00000515176.1:p.Gly716=
ENST00000703110.1:c.*1617T>G	ENSP00000515177.1:n.*1617T>G
ENST00000703111.1:n.2398T>G
ENST00000703112.1:n.3059T>G
ENST00000703113.1:c.*1528T>G	ENSP00000515178.1:n.*1528T>G
ENST00000703114.1:c.*764T>G	ENSP00000515179.1:n.*764T>G
ENST00000703115.1:c.1228T>G	ENSP00000515180.1:n.1228T>G
ENST00000323786.10:c.2115T>G MANE Select	ENSP00000315775.5:p.Gly705=
ENST00000564415.6:c.*1895T>G	ENSP00000456653.2:n.*1895T>G
ENST00000674443.1:c.2040T>G	ENSP00000501405.1:p.Gly680=
ENST00000323786.9:c.2115T>G	ENSP00000315775.5:p.Gly705=
ENST00000393612.8:c.2052T>G	ENSP00000377236.5:p.Gly684=
ENST00000482252.5:c.2262T>G	ENSP00000432802.1:n.2262T>G
ENST00000526700.5:n.1291T>G
ENST00000530314.5:n.2794T>G
ENST00000564415.5:c.*1895T>G	ENSP00000456653.1:n.*1895T>G
ENST00000565715.1:c.177T>G	ENSP00000455693.1:p.Gly59=
NM_001195139.1:c.2052T>G	NP_001182068.1:p.Gly684=
NM_015386.2:c.2115T>G	NP_056201.2:p.Gly705=
XM_011522981.1:c.1689T>G	XP_011521283.1:p.Gly563=
XM_011522981.3:c.1689T>G	XP_011521283.1:p.Gly563=
XM_024450224.1:c.1134T>G	XP_024305992.1:p.Gly378=
XR_001751889.1:n.1998T>G
XR_933266.2:n.2061T>G
NM_015386.3:c.2115T>G MANE Select	NP_056201.2:p.Gly705=
NM_001195139.2:c.2040T>G	NP_001182068.2:p.Gly680=
NM_001365426.1:c.1689T>G	NP_001352355.1:p.Gly563=
NR_158212.1:n.2074T>G