Canonical Allele Identifier: CA496228704

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70517801A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483898A>C , CM000678.2:g.70483898A>C	GRCh38
NC_000016.9:g.70517801A>C , CM000678.1:g.70517801A>C	GRCh37
NC_000016.8:g.69075302A>C	NCBI36
NG_027529.1:g.44657T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1858T>G	ENSP00000461912.2:n.*1858T>G
ENST00000703106.1:c.1827T>G	ENSP00000515173.1:n.1827T>G
ENST00000703107.1:c.*1711T>G	ENSP00000515174.1:n.*1711T>G
ENST00000703108.1:c.*230T>G	ENSP00000515175.1:n.*230T>G
ENST00000703109.1:c.1815T>G	ENSP00000515176.1:p.Leu605=
ENST00000703110.1:c.*1284T>G	ENSP00000515177.1:n.*1284T>G
ENST00000703111.1:n.1789T>G
ENST00000703112.1:n.2555T>G
ENST00000703113.1:c.*1195T>G	ENSP00000515178.1:n.*1195T>G
ENST00000703114.1:c.*431T>G	ENSP00000515179.1:n.*431T>G
ENST00000703115.1:c.895T>G	ENSP00000515180.1:n.895T>G
ENST00000323786.10:c.1782T>G MANE Select	ENSP00000315775.5:p.Leu594=
ENST00000564415.6:c.*1562T>G	ENSP00000456653.2:n.*1562T>G
ENST00000674443.1:c.1707T>G	ENSP00000501405.1:p.Leu569=
ENST00000323786.9:c.1782T>G	ENSP00000315775.5:p.Leu594=
ENST00000393612.8:c.1719T>G	ENSP00000377236.5:p.Leu573=
ENST00000482252.5:c.1929T>G	ENSP00000432802.1:n.1929T>G
ENST00000526700.5:n.958T>G
ENST00000530314.5:n.2461T>G
ENST00000564315.1:n.242T>G
ENST00000564415.5:c.*1562T>G	ENSP00000456653.1:n.*1562T>G
NM_001195139.1:c.1719T>G	NP_001182068.1:p.Leu573=
NM_015386.2:c.1782T>G	NP_056201.2:p.Leu594=
XM_011522981.1:c.1356T>G	XP_011521283.1:p.Leu452=
XR_933266.1:n.1728T>G
XR_933267.1:n.1728T>G
XM_011522981.3:c.1356T>G	XP_011521283.1:p.Leu452=
XM_024450224.1:c.801T>G	XP_024305992.1:p.Leu267=
XR_001751889.1:n.1665T>G
XR_933266.2:n.1728T>G
NM_015386.3:c.1782T>G MANE Select	NP_056201.2:p.Leu594=
NM_001195139.2:c.1707T>G	NP_001182068.2:p.Leu569=
NM_001365426.1:c.1356T>G	NP_001352355.1:p.Leu452=
NR_158212.1:n.1741T>G