Canonical Allele Identifier: CA496228642

Gene: COG4

Linked Data

• dbSNP Id: rs1362301227
• gnomAD v2: 16-70517762-G-C
• gnomAD v4: 16-70483859-G-C
• MyVariant Identifiers: chr16:g.70517762G>C (hg19) ; chr16:g.70483859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483859G>C , CM000678.2:g.70483859G>C	GRCh38
NC_000016.9:g.70517762G>C , CM000678.1:g.70517762G>C	GRCh37
NC_000016.8:g.69075263G>C	NCBI36
NG_027529.1:g.44696C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1897C>G	ENSP00000461912.2:n.*1897C>G
ENST00000703106.1:c.1866C>G	ENSP00000515173.1:n.1866C>G
ENST00000703107.1:c.*1750C>G	ENSP00000515174.1:n.*1750C>G
ENST00000703108.1:c.*269C>G	ENSP00000515175.1:n.*269C>G
ENST00000703109.1:c.1854C>G	ENSP00000515176.1:p.Leu618=
ENST00000703110.1:c.*1323C>G	ENSP00000515177.1:n.*1323C>G
ENST00000703111.1:n.1828C>G
ENST00000703112.1:n.2594C>G
ENST00000703113.1:c.*1234C>G	ENSP00000515178.1:n.*1234C>G
ENST00000703114.1:c.*470C>G	ENSP00000515179.1:n.*470C>G
ENST00000703115.1:c.934C>G	ENSP00000515180.1:n.934C>G
ENST00000323786.10:c.1821C>G MANE Select	ENSP00000315775.5:p.Leu607=
ENST00000564415.6:c.*1601C>G	ENSP00000456653.2:n.*1601C>G
ENST00000674443.1:c.1746C>G	ENSP00000501405.1:p.Leu582=
ENST00000323786.9:c.1821C>G	ENSP00000315775.5:p.Leu607=
ENST00000393612.8:c.1758C>G	ENSP00000377236.5:p.Leu586=
ENST00000482252.5:c.1968C>G	ENSP00000432802.1:n.1968C>G
ENST00000526700.5:n.997C>G
ENST00000530314.5:n.2500C>G
ENST00000564315.1:n.281C>G
ENST00000564415.5:c.*1601C>G	ENSP00000456653.1:n.*1601C>G
NM_001195139.1:c.1758C>G	NP_001182068.1:p.Leu586=
NM_015386.2:c.1821C>G	NP_056201.2:p.Leu607=
XM_011522981.1:c.1395C>G	XP_011521283.1:p.Leu465=
XR_933266.1:n.1767C>G
XR_933267.1:n.1767C>G
XM_011522981.3:c.1395C>G	XP_011521283.1:p.Leu465=
XM_024450224.1:c.840C>G	XP_024305992.1:p.Leu280=
XR_001751889.1:n.1704C>G
XR_933266.2:n.1767C>G
NM_015386.3:c.1821C>G MANE Select	NP_056201.2:p.Leu607=
NM_001195139.2:c.1746C>G	NP_001182068.2:p.Leu582=
NM_001365426.1:c.1395C>G	NP_001352355.1:p.Leu465=
NR_158212.1:n.1780C>G