Canonical Allele Identifier: CA496227812

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515343G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481440G>A , CM000678.2:g.70481440G>A	GRCh38
NC_000016.9:g.70515343G>A , CM000678.1:g.70515343G>A	GRCh37
NC_000016.8:g.69072844G>A	NCBI36
NG_027529.1:g.47115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2230C>T	ENSP00000461912.2:n.*2230C>T
ENST00000703106.1:c.2199C>T	ENSP00000515173.1:n.2199C>T
ENST00000703107.1:c.*2083C>T	ENSP00000515174.1:n.*2083C>T
ENST00000703108.1:c.*602C>T	ENSP00000515175.1:n.*602C>T
ENST00000703109.1:c.2187C>T	ENSP00000515176.1:p.Tyr729=
ENST00000703110.1:c.*1656C>T	ENSP00000515177.1:n.*1656C>T
ENST00000703111.1:n.2437C>T
ENST00000703112.1:n.3098C>T
ENST00000703113.1:c.*1567C>T	ENSP00000515178.1:n.*1567C>T
ENST00000703114.1:c.*803C>T	ENSP00000515179.1:n.*803C>T
ENST00000703115.1:c.1267C>T	ENSP00000515180.1:n.1267C>T
ENST00000323786.10:c.2154C>T MANE Select	ENSP00000315775.5:p.Tyr718=
ENST00000564415.6:c.*1934C>T	ENSP00000456653.2:n.*1934C>T
ENST00000674443.1:c.2079C>T	ENSP00000501405.1:p.Tyr693=
ENST00000323786.9:c.2154C>T	ENSP00000315775.5:p.Tyr718=
ENST00000393612.8:c.2091C>T	ENSP00000377236.5:p.Tyr697=
ENST00000482252.5:c.2301C>T	ENSP00000432802.1:n.2301C>T
ENST00000526700.5:n.1330C>T
ENST00000530314.5:n.2833C>T
ENST00000564415.5:c.*1934C>T	ENSP00000456653.1:n.*1934C>T
ENST00000565715.1:c.216C>T	ENSP00000455693.1:p.Tyr72=
NM_001195139.1:c.2091C>T	NP_001182068.1:p.Tyr697=
NM_015386.2:c.2154C>T	NP_056201.2:p.Tyr718=
XM_011522981.1:c.1728C>T	XP_011521283.1:p.Tyr576=
XM_011522981.3:c.1728C>T	XP_011521283.1:p.Tyr576=
XM_024450224.1:c.1173C>T	XP_024305992.1:p.Tyr391=
XR_933266.2:n.2100C>T
NM_015386.3:c.2154C>T MANE Select	NP_056201.2:p.Tyr718=
NM_001195139.2:c.2079C>T	NP_001182068.2:p.Tyr693=
NM_001365426.1:c.1728C>T	NP_001352355.1:p.Tyr576=
NR_158212.1:n.2113C>T