Canonical Allele Identifier: CA496227833

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515379C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481476C>A , CM000678.2:g.70481476C>A	GRCh38
NC_000016.9:g.70515379C>A , CM000678.1:g.70515379C>A	GRCh37
NC_000016.8:g.69072880C>A	NCBI36
NG_027529.1:g.47079G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2194G>T	ENSP00000461912.2:n.*2194G>T
ENST00000703106.1:c.2163G>T	ENSP00000515173.1:n.2163G>T
ENST00000703107.1:c.*2047G>T	ENSP00000515174.1:n.*2047G>T
ENST00000703108.1:c.*566G>T	ENSP00000515175.1:n.*566G>T
ENST00000703109.1:c.2151G>T	ENSP00000515176.1:p.Leu717=
ENST00000703110.1:c.*1620G>T	ENSP00000515177.1:n.*1620G>T
ENST00000703111.1:n.2401G>T
ENST00000703112.1:n.3062G>T
ENST00000703113.1:c.*1531G>T	ENSP00000515178.1:n.*1531G>T
ENST00000703114.1:c.*767G>T	ENSP00000515179.1:n.*767G>T
ENST00000703115.1:c.1231G>T	ENSP00000515180.1:n.1231G>T
ENST00000323786.10:c.2118G>T MANE Select	ENSP00000315775.5:p.Leu706=
ENST00000564415.6:c.*1898G>T	ENSP00000456653.2:n.*1898G>T
ENST00000674443.1:c.2043G>T	ENSP00000501405.1:p.Leu681=
ENST00000323786.9:c.2118G>T	ENSP00000315775.5:p.Leu706=
ENST00000393612.8:c.2055G>T	ENSP00000377236.5:p.Leu685=
ENST00000482252.5:c.2265G>T	ENSP00000432802.1:n.2265G>T
ENST00000526700.5:n.1294G>T
ENST00000530314.5:n.2797G>T
ENST00000564415.5:c.*1898G>T	ENSP00000456653.1:n.*1898G>T
ENST00000565715.1:c.180G>T	ENSP00000455693.1:p.Leu60=
NM_001195139.1:c.2055G>T	NP_001182068.1:p.Leu685=
NM_015386.2:c.2118G>T	NP_056201.2:p.Leu706=
XM_011522981.1:c.1692G>T	XP_011521283.1:p.Leu564=
XM_011522981.3:c.1692G>T	XP_011521283.1:p.Leu564=
XM_024450224.1:c.1137G>T	XP_024305992.1:p.Leu379=
XR_001751889.1:n.2001G>T
XR_933266.2:n.2064G>T
NM_015386.3:c.2118G>T MANE Select	NP_056201.2:p.Leu706=
NM_001195139.2:c.2043G>T	NP_001182068.2:p.Leu681=
NM_001365426.1:c.1692G>T	NP_001352355.1:p.Leu564=
NR_158212.1:n.2077G>T