Canonical Allele Identifier: CA283483401

Gene: COG4

Linked Data

• dbSNP Id: rs921913287
• gnomAD v2: 16-70517684-G-C
• gnomAD v3: 16-70483781-G-C
• gnomAD v4: 16-70483781-G-C
• MyVariant Identifiers: chr16:g.70517684G>C (hg19) ; chr16:g.70483781G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483781G>C , CM000678.2:g.70483781G>C	GRCh38
NC_000016.9:g.70517684G>C , CM000678.1:g.70517684G>C	GRCh37
NC_000016.8:g.69075185G>C	NCBI36
NG_027529.1:g.44774C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000534772.2:c.*1903+72C>G	ENSP00000461912.2:n.*1903+72C>G
ENST00000703106.1:c.1872+72C>G	ENSP00000515173.1:n.1872+72C>G
ENST00000703107.1:c.*1756+72C>G	ENSP00000515174.1:n.*1756+72C>G
ENST00000703108.1:c.*275+72C>G	ENSP00000515175.1:n.*275+72C>G
ENST00000703109.1:c.1860+72C>G	ENSP00000515176.1:n.1860+72C>G
ENST00000703110.1:c.*1329+72C>G	ENSP00000515177.1:n.*1329+72C>G
ENST00000703111.1:n.1834+72C>G
ENST00000703112.1:n.2600+72C>G
ENST00000703113.1:c.*1240+72C>G	ENSP00000515178.1:n.*1240+72C>G
ENST00000703114.1:c.*476+72C>G	ENSP00000515179.1:n.*476+72C>G
ENST00000703115.1:c.940+72C>G	ENSP00000515180.1:n.940+72C>G
ENST00000323786.10:c.1827+72C>G MANE Select	ENSP00000315775.5:n.1827+72C>G
ENST00000564415.6:c.*1607+72C>G	ENSP00000456653.2:n.*1607+72C>G
ENST00000674443.1:c.1752+72C>G	ENSP00000501405.1:n.1752+72C>G
ENST00000323786.9:c.1827+72C>G	ENSP00000315775.5:n.1827+72C>G
ENST00000393612.8:c.1764+72C>G	ENSP00000377236.5:n.1764+72C>G
ENST00000482252.5:c.1974+72C>G	ENSP00000432802.1:n.1974+72C>G
ENST00000526700.5:n.1003+72C>G
ENST00000530314.5:n.2506+72C>G
ENST00000564315.1:n.287+72C>G
ENST00000564415.5:c.*1607+72C>G	ENSP00000456653.1:n.*1607+72C>G
NM_001195139.1:c.1764+72C>G	NP_001182068.1:n.1764+72C>G
NM_015386.2:c.1827+72C>G	NP_056201.2:n.1827+72C>G
XM_011522981.1:c.1401+72C>G	XP_011521283.1:n.1401+72C>G
XR_933266.1:n.1773+72C>G
XR_933267.1:n.1773+72C>G
XM_011522981.3:c.1401+72C>G	XP_011521283.1:n.1401+72C>G
XM_024450224.1:c.846+72C>G	XP_024305992.1:n.846+72C>G
XR_001751889.1:n.1710+72C>G
XR_933266.2:n.1773+72C>G
NM_015386.3:c.1827+72C>G MANE Select	NP_056201.2:n.1827+72C>G
NM_001195139.2:c.1752+72C>G	NP_001182068.2:n.1752+72C>G
NM_001365426.1:c.1401+72C>G	NP_001352355.1:n.1401+72C>G
NR_158212.1:n.1786+72C>G