Canonical Allele Identifier: CA8144206

Gene: COG4

Linked Data

• dbSNP Id: rs779559679
• ExAC: 16:70517849 G / A
• gnomAD v2: 16-70517849-G-A
• gnomAD v4: 16-70483946-G-A
• MyVariant Identifiers: chr16:g.70517849G>A (hg19) ; chr16:g.70483946G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483946G>A , CM000678.2:g.70483946G>A	GRCh38
NC_000016.9:g.70517849G>A , CM000678.1:g.70517849G>A	GRCh37
NC_000016.8:g.69075350G>A	NCBI36
NG_027529.1:g.44609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1810C>T	ENSP00000461912.2:n.*1810C>T
ENST00000703106.1:c.1779C>T	ENSP00000515173.1:n.1779C>T
ENST00000703107.1:c.*1663C>T	ENSP00000515174.1:n.*1663C>T
ENST00000703108.1:c.*182C>T	ENSP00000515175.1:n.*182C>T
ENST00000703109.1:c.1767C>T	ENSP00000515176.1:p.Ser589=
ENST00000703110.1:c.*1236C>T	ENSP00000515177.1:n.*1236C>T
ENST00000703111.1:n.1741C>T
ENST00000703112.1:n.2507C>T
ENST00000703113.1:c.*1147C>T	ENSP00000515178.1:n.*1147C>T
ENST00000703114.1:c.*383C>T	ENSP00000515179.1:n.*383C>T
ENST00000703115.1:c.847C>T	ENSP00000515180.1:n.847C>T
ENST00000323786.10:c.1734C>T MANE Select	ENSP00000315775.5:p.Ser578=
ENST00000564415.6:c.*1514C>T	ENSP00000456653.2:n.*1514C>T
ENST00000674443.1:c.1659C>T	ENSP00000501405.1:p.Ser553=
ENST00000323786.9:c.1734C>T	ENSP00000315775.5:p.Ser578=
ENST00000393612.8:c.1671C>T	ENSP00000377236.5:p.Ser557=
ENST00000482252.5:c.1881C>T	ENSP00000432802.1:n.1881C>T
ENST00000526700.5:n.910C>T
ENST00000530314.5:n.2413C>T
ENST00000564315.1:n.194C>T
ENST00000564415.5:c.*1514C>T	ENSP00000456653.1:n.*1514C>T
NM_001195139.1:c.1671C>T	NP_001182068.1:p.Ser557=
NM_015386.2:c.1734C>T	NP_056201.2:p.Ser578=
XM_011522981.1:c.1308C>T	XP_011521283.1:p.Ser436=
XR_933266.1:n.1680C>T
XR_933267.1:n.1680C>T
XM_011522981.3:c.1308C>T	XP_011521283.1:p.Ser436=
XM_024450224.1:c.753C>T	XP_024305992.1:p.Ser251=
XR_001751889.1:n.1617C>T
XR_933266.2:n.1680C>T
NM_015386.3:c.1734C>T MANE Select	NP_056201.2:p.Ser578=
NM_001195139.2:c.1659C>T	NP_001182068.2:p.Ser553=
NM_001365426.1:c.1308C>T	NP_001352355.1:p.Ser436=
NR_158212.1:n.1693C>T