Canonical Allele Identifier: CA396578392

Gene: COG4

Linked Data

• gnomAD v4: 16-70481448-T-G
• MyVariant Identifiers: chr16:g.70515351T>G (hg19) ; chr16:g.70481448T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481448T>G , CM000678.2:g.70481448T>G	GRCh38
NC_000016.9:g.70515351T>G , CM000678.1:g.70515351T>G	GRCh37
NC_000016.8:g.69072852T>G	NCBI36
NG_027529.1:g.47107A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2222A>C	ENSP00000461912.2:n.*2222A>C
ENST00000703106.1:c.2191A>C	ENSP00000515173.1:n.2191A>C
ENST00000703107.1:c.*2075A>C	ENSP00000515174.1:n.*2075A>C
ENST00000703108.1:c.*594A>C	ENSP00000515175.1:n.*594A>C
ENST00000703109.1:c.2179A>C	ENSP00000515176.1:p.Ile727Leu
ENST00000703110.1:c.*1648A>C	ENSP00000515177.1:n.*1648A>C
ENST00000703111.1:n.2429A>C
ENST00000703112.1:n.3090A>C
ENST00000703113.1:c.*1559A>C	ENSP00000515178.1:n.*1559A>C
ENST00000703114.1:c.*795A>C	ENSP00000515179.1:n.*795A>C
ENST00000703115.1:c.1259A>C	ENSP00000515180.1:n.1259A>C
ENST00000323786.10:c.2146A>C MANE Select	ENSP00000315775.5:p.Ile716Leu
ENST00000564415.6:c.*1926A>C	ENSP00000456653.2:n.*1926A>C
ENST00000674443.1:c.2071A>C	ENSP00000501405.1:p.Ile691Leu
ENST00000323786.9:c.2146A>C	ENSP00000315775.5:p.Ile716Leu
ENST00000393612.8:c.2083A>C	ENSP00000377236.5:p.Ile695Leu
ENST00000482252.5:c.2293A>C	ENSP00000432802.1:n.2293A>C
ENST00000526700.5:n.1322A>C
ENST00000530314.5:n.2825A>C
ENST00000564415.5:c.*1926A>C	ENSP00000456653.1:n.*1926A>C
ENST00000565715.1:c.208A>C	ENSP00000455693.1:p.Ile70Leu
NM_001195139.1:c.2083A>C	NP_001182068.1:p.Ile695Leu
NM_015386.2:c.2146A>C	NP_056201.2:p.Ile716Leu
XM_011522981.1:c.1720A>C	XP_011521283.1:p.Ile574Leu
XM_011522981.3:c.1720A>C	XP_011521283.1:p.Ile574Leu
XM_024450224.1:c.1165A>C	XP_024305992.1:p.Ile389Leu
XR_933266.2:n.2092A>C
NM_015386.3:c.2146A>C MANE Select	NP_056201.2:p.Ile716Leu
NM_001195139.2:c.2071A>C	NP_001182068.2:p.Ile691Leu
NM_001365426.1:c.1720A>C	NP_001352355.1:p.Ile574Leu
NR_158212.1:n.2105A>C