Canonical Allele Identifier: CA396580807

Gene: COG4

Linked Data

• gnomAD v4: 16-70483959-G-C
• MyVariant Identifiers: chr16:g.70517862G>C (hg19) ; chr16:g.70483959G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483959G>C , CM000678.2:g.70483959G>C	GRCh38
NC_000016.9:g.70517862G>C , CM000678.1:g.70517862G>C	GRCh37
NC_000016.8:g.69075363G>C	NCBI36
NG_027529.1:g.44596C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1797C>G	ENSP00000461912.2:n.*1797C>G
ENST00000703106.1:c.1766C>G	ENSP00000515173.1:n.1766C>G
ENST00000703107.1:c.*1650C>G	ENSP00000515174.1:n.*1650C>G
ENST00000703108.1:c.*169C>G	ENSP00000515175.1:n.*169C>G
ENST00000703109.1:c.1754C>G	ENSP00000515176.1:p.Thr585Ser
ENST00000703110.1:c.*1223C>G	ENSP00000515177.1:n.*1223C>G
ENST00000703111.1:n.1728C>G
ENST00000703112.1:n.2494C>G
ENST00000703113.1:c.*1134C>G	ENSP00000515178.1:n.*1134C>G
ENST00000703114.1:c.*370C>G	ENSP00000515179.1:n.*370C>G
ENST00000703115.1:c.834C>G	ENSP00000515180.1:n.834C>G
ENST00000323786.10:c.1721C>G MANE Select	ENSP00000315775.5:p.Thr574Ser
ENST00000564415.6:c.*1501C>G	ENSP00000456653.2:n.*1501C>G
ENST00000674443.1:c.1646C>G	ENSP00000501405.1:p.Thr549Ser
ENST00000323786.9:c.1721C>G	ENSP00000315775.5:p.Thr574Ser
ENST00000393612.8:c.1658C>G	ENSP00000377236.5:p.Thr553Ser
ENST00000482252.5:c.1868C>G	ENSP00000432802.1:n.1868C>G
ENST00000526700.5:n.897C>G
ENST00000530314.5:n.2400C>G
ENST00000564315.1:n.181C>G
ENST00000564415.5:c.*1501C>G	ENSP00000456653.1:n.*1501C>G
NM_001195139.1:c.1658C>G	NP_001182068.1:p.Thr553Ser
NM_015386.2:c.1721C>G	NP_056201.2:p.Thr574Ser
XM_011522981.1:c.1295C>G	XP_011521283.1:p.Thr432Ser
XR_933266.1:n.1667C>G
XR_933267.1:n.1667C>G
XM_011522981.3:c.1295C>G	XP_011521283.1:p.Thr432Ser
XM_024450224.1:c.740C>G	XP_024305992.1:p.Thr247Ser
XR_001751889.1:n.1604C>G
XR_933266.2:n.1667C>G
NM_015386.3:c.1721C>G MANE Select	NP_056201.2:p.Thr574Ser
NM_001195139.2:c.1646C>G	NP_001182068.2:p.Thr549Ser
NM_001365426.1:c.1295C>G	NP_001352355.1:p.Thr432Ser
NR_158212.1:n.1680C>G