Canonical Allele Identifier: CA396580628

Gene: COG4

Linked Data

• gnomAD v4: 16-70483878-G-C
• MyVariant Identifiers: chr16:g.70517781G>C (hg19) ; chr16:g.70483878G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483878G>C , CM000678.2:g.70483878G>C	GRCh38
NC_000016.9:g.70517781G>C , CM000678.1:g.70517781G>C	GRCh37
NC_000016.8:g.69075282G>C	NCBI36
NG_027529.1:g.44677C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1878C>G	ENSP00000461912.2:n.*1878C>G
ENST00000703106.1:c.1847C>G	ENSP00000515173.1:n.1847C>G
ENST00000703107.1:c.*1731C>G	ENSP00000515174.1:n.*1731C>G
ENST00000703108.1:c.*250C>G	ENSP00000515175.1:n.*250C>G
ENST00000703109.1:c.1835C>G	ENSP00000515176.1:p.Ser612Cys
ENST00000703110.1:c.*1304C>G	ENSP00000515177.1:n.*1304C>G
ENST00000703111.1:n.1809C>G
ENST00000703112.1:n.2575C>G
ENST00000703113.1:c.*1215C>G	ENSP00000515178.1:n.*1215C>G
ENST00000703114.1:c.*451C>G	ENSP00000515179.1:n.*451C>G
ENST00000703115.1:c.915C>G	ENSP00000515180.1:n.915C>G
ENST00000323786.10:c.1802C>G MANE Select	ENSP00000315775.5:p.Ser601Cys
ENST00000564415.6:c.*1582C>G	ENSP00000456653.2:n.*1582C>G
ENST00000674443.1:c.1727C>G	ENSP00000501405.1:p.Ser576Cys
ENST00000323786.9:c.1802C>G	ENSP00000315775.5:p.Ser601Cys
ENST00000393612.8:c.1739C>G	ENSP00000377236.5:p.Ser580Cys
ENST00000482252.5:c.1949C>G	ENSP00000432802.1:n.1949C>G
ENST00000526700.5:n.978C>G
ENST00000530314.5:n.2481C>G
ENST00000564315.1:n.262C>G
ENST00000564415.5:c.*1582C>G	ENSP00000456653.1:n.*1582C>G
NM_001195139.1:c.1739C>G	NP_001182068.1:p.Ser580Cys
NM_015386.2:c.1802C>G	NP_056201.2:p.Ser601Cys
XM_011522981.1:c.1376C>G	XP_011521283.1:p.Ser459Cys
XR_933266.1:n.1748C>G
XR_933267.1:n.1748C>G
XM_011522981.3:c.1376C>G	XP_011521283.1:p.Ser459Cys
XM_024450224.1:c.821C>G	XP_024305992.1:p.Ser274Cys
XR_001751889.1:n.1685C>G
XR_933266.2:n.1748C>G
NM_015386.3:c.1802C>G MANE Select	NP_056201.2:p.Ser601Cys
NM_001195139.2:c.1727C>G	NP_001182068.2:p.Ser576Cys
NM_001365426.1:c.1376C>G	NP_001352355.1:p.Ser459Cys
NR_158212.1:n.1761C>G