Canonical Allele Identifier: CA396580580

Gene: COG4

Linked Data

• gnomAD v4: 16-70483856-C-G
• MyVariant Identifiers: chr16:g.70517759C>G (hg19) ; chr16:g.70483856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483856C>G , CM000678.2:g.70483856C>G	GRCh38
NC_000016.9:g.70517759C>G , CM000678.1:g.70517759C>G	GRCh37
NC_000016.8:g.69075260C>G	NCBI36
NG_027529.1:g.44699G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1900G>C	ENSP00000461912.2:n.*1900G>C
ENST00000703106.1:c.1869G>C	ENSP00000515173.1:n.1869G>C
ENST00000703107.1:c.*1753G>C	ENSP00000515174.1:n.*1753G>C
ENST00000703108.1:c.*272G>C	ENSP00000515175.1:n.*272G>C
ENST00000703109.1:c.1857G>C	ENSP00000515176.1:p.Leu619Phe
ENST00000703110.1:c.*1326G>C	ENSP00000515177.1:n.*1326G>C
ENST00000703111.1:n.1831G>C
ENST00000703112.1:n.2597G>C
ENST00000703113.1:c.*1237G>C	ENSP00000515178.1:n.*1237G>C
ENST00000703114.1:c.*473G>C	ENSP00000515179.1:n.*473G>C
ENST00000703115.1:c.937G>C	ENSP00000515180.1:n.937G>C
ENST00000323786.10:c.1824G>C MANE Select	ENSP00000315775.5:p.Leu608Phe
ENST00000564415.6:c.*1604G>C	ENSP00000456653.2:n.*1604G>C
ENST00000674443.1:c.1749G>C	ENSP00000501405.1:p.Leu583Phe
ENST00000323786.9:c.1824G>C	ENSP00000315775.5:p.Leu608Phe
ENST00000393612.8:c.1761G>C	ENSP00000377236.5:p.Leu587Phe
ENST00000482252.5:c.1971G>C	ENSP00000432802.1:n.1971G>C
ENST00000526700.5:n.1000G>C
ENST00000530314.5:n.2503G>C
ENST00000564315.1:n.284G>C
ENST00000564415.5:c.*1604G>C	ENSP00000456653.1:n.*1604G>C
NM_001195139.1:c.1761G>C	NP_001182068.1:p.Leu587Phe
NM_015386.2:c.1824G>C	NP_056201.2:p.Leu608Phe
XM_011522981.1:c.1398G>C	XP_011521283.1:p.Leu466Phe
XR_933266.1:n.1770G>C
XR_933267.1:n.1770G>C
XM_011522981.3:c.1398G>C	XP_011521283.1:p.Leu466Phe
XM_024450224.1:c.843G>C	XP_024305992.1:p.Leu281Phe
XR_001751889.1:n.1707G>C
XR_933266.2:n.1770G>C
NM_015386.3:c.1824G>C MANE Select	NP_056201.2:p.Leu608Phe
NM_001195139.2:c.1749G>C	NP_001182068.2:p.Leu583Phe
NM_001365426.1:c.1398G>C	NP_001352355.1:p.Leu466Phe
NR_158212.1:n.1783G>C