Canonical Allele Identifier: CA496228684

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517789G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483886G>C , CM000678.2:g.70483886G>C	GRCh38
NC_000016.9:g.70517789G>C , CM000678.1:g.70517789G>C	GRCh37
NC_000016.8:g.69075290G>C	NCBI36
NG_027529.1:g.44669C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1870C>G	ENSP00000461912.2:n.*1870C>G
ENST00000703106.1:c.1839C>G	ENSP00000515173.1:n.1839C>G
ENST00000703107.1:c.*1723C>G	ENSP00000515174.1:n.*1723C>G
ENST00000703108.1:c.*242C>G	ENSP00000515175.1:n.*242C>G
ENST00000703109.1:c.1827C>G	ENSP00000515176.1:p.Ala609=
ENST00000703110.1:c.*1296C>G	ENSP00000515177.1:n.*1296C>G
ENST00000703111.1:n.1801C>G
ENST00000703112.1:n.2567C>G
ENST00000703113.1:c.*1207C>G	ENSP00000515178.1:n.*1207C>G
ENST00000703114.1:c.*443C>G	ENSP00000515179.1:n.*443C>G
ENST00000703115.1:c.907C>G	ENSP00000515180.1:n.907C>G
ENST00000323786.10:c.1794C>G MANE Select	ENSP00000315775.5:p.Ala598=
ENST00000564415.6:c.*1574C>G	ENSP00000456653.2:n.*1574C>G
ENST00000674443.1:c.1719C>G	ENSP00000501405.1:p.Ala573=
ENST00000323786.9:c.1794C>G	ENSP00000315775.5:p.Ala598=
ENST00000393612.8:c.1731C>G	ENSP00000377236.5:p.Ala577=
ENST00000482252.5:c.1941C>G	ENSP00000432802.1:n.1941C>G
ENST00000526700.5:n.970C>G
ENST00000530314.5:n.2473C>G
ENST00000564315.1:n.254C>G
ENST00000564415.5:c.*1574C>G	ENSP00000456653.1:n.*1574C>G
NM_001195139.1:c.1731C>G	NP_001182068.1:p.Ala577=
NM_015386.2:c.1794C>G	NP_056201.2:p.Ala598=
XM_011522981.1:c.1368C>G	XP_011521283.1:p.Ala456=
XR_933266.1:n.1740C>G
XR_933267.1:n.1740C>G
XM_011522981.3:c.1368C>G	XP_011521283.1:p.Ala456=
XM_024450224.1:c.813C>G	XP_024305992.1:p.Ala271=
XR_001751889.1:n.1677C>G
XR_933266.2:n.1740C>G
NM_015386.3:c.1794C>G MANE Select	NP_056201.2:p.Ala598=
NM_001195139.2:c.1719C>G	NP_001182068.2:p.Ala573=
NM_001365426.1:c.1368C>G	NP_001352355.1:p.Ala456=
NR_158212.1:n.1753C>G