Canonical Allele Identifier: CA396578592

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515380A>C (hg19) ; chr16:g.70481477A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481477A>C , CM000678.2:g.70481477A>C	GRCh38
NC_000016.9:g.70515380A>C , CM000678.1:g.70515380A>C	GRCh37
NC_000016.8:g.69072881A>C	NCBI36
NG_027529.1:g.47078T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2193T>G	ENSP00000461912.2:n.*2193T>G
ENST00000703106.1:c.2162T>G	ENSP00000515173.1:n.2162T>G
ENST00000703107.1:c.*2046T>G	ENSP00000515174.1:n.*2046T>G
ENST00000703108.1:c.*565T>G	ENSP00000515175.1:n.*565T>G
ENST00000703109.1:c.2150T>G	ENSP00000515176.1:p.Leu717Arg
ENST00000703110.1:c.*1619T>G	ENSP00000515177.1:n.*1619T>G
ENST00000703111.1:n.2400T>G
ENST00000703112.1:n.3061T>G
ENST00000703113.1:c.*1530T>G	ENSP00000515178.1:n.*1530T>G
ENST00000703114.1:c.*766T>G	ENSP00000515179.1:n.*766T>G
ENST00000703115.1:c.1230T>G	ENSP00000515180.1:n.1230T>G
ENST00000323786.10:c.2117T>G MANE Select	ENSP00000315775.5:p.Leu706Arg
ENST00000564415.6:c.*1897T>G	ENSP00000456653.2:n.*1897T>G
ENST00000674443.1:c.2042T>G	ENSP00000501405.1:p.Leu681Arg
ENST00000323786.9:c.2117T>G	ENSP00000315775.5:p.Leu706Arg
ENST00000393612.8:c.2054T>G	ENSP00000377236.5:p.Leu685Arg
ENST00000482252.5:c.2264T>G	ENSP00000432802.1:n.2264T>G
ENST00000526700.5:n.1293T>G
ENST00000530314.5:n.2796T>G
ENST00000564415.5:c.*1897T>G	ENSP00000456653.1:n.*1897T>G
ENST00000565715.1:c.179T>G	ENSP00000455693.1:p.Leu60Arg
NM_001195139.1:c.2054T>G	NP_001182068.1:p.Leu685Arg
NM_015386.2:c.2117T>G	NP_056201.2:p.Leu706Arg
XM_011522981.1:c.1691T>G	XP_011521283.1:p.Leu564Arg
XM_011522981.3:c.1691T>G	XP_011521283.1:p.Leu564Arg
XM_024450224.1:c.1136T>G	XP_024305992.1:p.Leu379Arg
XR_001751889.1:n.2000T>G
XR_933266.2:n.2063T>G
NM_015386.3:c.2117T>G MANE Select	NP_056201.2:p.Leu706Arg
NM_001195139.2:c.2042T>G	NP_001182068.2:p.Leu681Arg
NM_001365426.1:c.1691T>G	NP_001352355.1:p.Leu564Arg
NR_158212.1:n.2076T>G