Canonical Allele Identifier: CA496227836

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515381G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481478G>A , CM000678.2:g.70481478G>A	GRCh38
NC_000016.9:g.70515381G>A , CM000678.1:g.70515381G>A	GRCh37
NC_000016.8:g.69072882G>A	NCBI36
NG_027529.1:g.47077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2192C>T	ENSP00000461912.2:n.*2192C>T
ENST00000703106.1:c.2161C>T	ENSP00000515173.1:n.2161C>T
ENST00000703107.1:c.*2045C>T	ENSP00000515174.1:n.*2045C>T
ENST00000703108.1:c.*564C>T	ENSP00000515175.1:n.*564C>T
ENST00000703109.1:c.2149C>T	ENSP00000515176.1:p.Leu717=
ENST00000703110.1:c.*1618C>T	ENSP00000515177.1:n.*1618C>T
ENST00000703111.1:n.2399C>T
ENST00000703112.1:n.3060C>T
ENST00000703113.1:c.*1529C>T	ENSP00000515178.1:n.*1529C>T
ENST00000703114.1:c.*765C>T	ENSP00000515179.1:n.*765C>T
ENST00000703115.1:c.1229C>T	ENSP00000515180.1:n.1229C>T
ENST00000323786.10:c.2116C>T MANE Select	ENSP00000315775.5:p.Leu706=
ENST00000564415.6:c.*1896C>T	ENSP00000456653.2:n.*1896C>T
ENST00000674443.1:c.2041C>T	ENSP00000501405.1:p.Leu681=
ENST00000323786.9:c.2116C>T	ENSP00000315775.5:p.Leu706=
ENST00000393612.8:c.2053C>T	ENSP00000377236.5:p.Leu685=
ENST00000482252.5:c.2263C>T	ENSP00000432802.1:n.2263C>T
ENST00000526700.5:n.1292C>T
ENST00000530314.5:n.2795C>T
ENST00000564415.5:c.*1896C>T	ENSP00000456653.1:n.*1896C>T
ENST00000565715.1:c.178C>T	ENSP00000455693.1:p.Leu60=
NM_001195139.1:c.2053C>T	NP_001182068.1:p.Leu685=
NM_015386.2:c.2116C>T	NP_056201.2:p.Leu706=
XM_011522981.1:c.1690C>T	XP_011521283.1:p.Leu564=
XM_011522981.3:c.1690C>T	XP_011521283.1:p.Leu564=
XM_024450224.1:c.1135C>T	XP_024305992.1:p.Leu379=
XR_001751889.1:n.1999C>T
XR_933266.2:n.2062C>T
NM_015386.3:c.2116C>T MANE Select	NP_056201.2:p.Leu706=
NM_001195139.2:c.2041C>T	NP_001182068.2:p.Leu681=
NM_001365426.1:c.1690C>T	NP_001352355.1:p.Leu564=
NR_158212.1:n.2075C>T