Canonical Allele Identifier: CA396578599

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515381G>C (hg19) ; chr16:g.70481478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481478G>C , CM000678.2:g.70481478G>C	GRCh38
NC_000016.9:g.70515381G>C , CM000678.1:g.70515381G>C	GRCh37
NC_000016.8:g.69072882G>C	NCBI36
NG_027529.1:g.47077C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2192C>G	ENSP00000461912.2:n.*2192C>G
ENST00000703106.1:c.2161C>G	ENSP00000515173.1:n.2161C>G
ENST00000703107.1:c.*2045C>G	ENSP00000515174.1:n.*2045C>G
ENST00000703108.1:c.*564C>G	ENSP00000515175.1:n.*564C>G
ENST00000703109.1:c.2149C>G	ENSP00000515176.1:p.Leu717Val
ENST00000703110.1:c.*1618C>G	ENSP00000515177.1:n.*1618C>G
ENST00000703111.1:n.2399C>G
ENST00000703112.1:n.3060C>G
ENST00000703113.1:c.*1529C>G	ENSP00000515178.1:n.*1529C>G
ENST00000703114.1:c.*765C>G	ENSP00000515179.1:n.*765C>G
ENST00000703115.1:c.1229C>G	ENSP00000515180.1:n.1229C>G
ENST00000323786.10:c.2116C>G MANE Select	ENSP00000315775.5:p.Leu706Val
ENST00000564415.6:c.*1896C>G	ENSP00000456653.2:n.*1896C>G
ENST00000674443.1:c.2041C>G	ENSP00000501405.1:p.Leu681Val
ENST00000323786.9:c.2116C>G	ENSP00000315775.5:p.Leu706Val
ENST00000393612.8:c.2053C>G	ENSP00000377236.5:p.Leu685Val
ENST00000482252.5:c.2263C>G	ENSP00000432802.1:n.2263C>G
ENST00000526700.5:n.1292C>G
ENST00000530314.5:n.2795C>G
ENST00000564415.5:c.*1896C>G	ENSP00000456653.1:n.*1896C>G
ENST00000565715.1:c.178C>G	ENSP00000455693.1:p.Leu60Val
NM_001195139.1:c.2053C>G	NP_001182068.1:p.Leu685Val
NM_015386.2:c.2116C>G	NP_056201.2:p.Leu706Val
XM_011522981.1:c.1690C>G	XP_011521283.1:p.Leu564Val
XM_011522981.3:c.1690C>G	XP_011521283.1:p.Leu564Val
XM_024450224.1:c.1135C>G	XP_024305992.1:p.Leu379Val
XR_001751889.1:n.1999C>G
XR_933266.2:n.2062C>G
NM_015386.3:c.2116C>G MANE Select	NP_056201.2:p.Leu706Val
NM_001195139.2:c.2041C>G	NP_001182068.2:p.Leu681Val
NM_001365426.1:c.1690C>G	NP_001352355.1:p.Leu564Val
NR_158212.1:n.2075C>G