Canonical Allele Identifier: CA396578304

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515341A>C (hg19) ; chr16:g.70481438A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481438A>C , CM000678.2:g.70481438A>C	GRCh38
NC_000016.9:g.70515341A>C , CM000678.1:g.70515341A>C	GRCh37
NC_000016.8:g.69072842A>C	NCBI36
NG_027529.1:g.47117T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2232T>G	ENSP00000461912.2:n.*2232T>G
ENST00000703106.1:c.2201T>G	ENSP00000515173.1:n.2201T>G
ENST00000703107.1:c.*2085T>G	ENSP00000515174.1:n.*2085T>G
ENST00000703108.1:c.*604T>G	ENSP00000515175.1:n.*604T>G
ENST00000703109.1:c.2189T>G	ENSP00000515176.1:p.Leu730Arg
ENST00000703110.1:c.*1658T>G	ENSP00000515177.1:n.*1658T>G
ENST00000703111.1:n.2439T>G
ENST00000703112.1:n.3100T>G
ENST00000703113.1:c.*1569T>G	ENSP00000515178.1:n.*1569T>G
ENST00000703114.1:c.*805T>G	ENSP00000515179.1:n.*805T>G
ENST00000703115.1:c.1269T>G	ENSP00000515180.1:n.1269T>G
ENST00000323786.10:c.2156T>G MANE Select	ENSP00000315775.5:p.Leu719Arg
ENST00000564415.6:c.*1936T>G	ENSP00000456653.2:n.*1936T>G
ENST00000674443.1:c.2081T>G	ENSP00000501405.1:p.Leu694Arg
ENST00000323786.9:c.2156T>G	ENSP00000315775.5:p.Leu719Arg
ENST00000393612.8:c.2093T>G	ENSP00000377236.5:p.Leu698Arg
ENST00000482252.5:c.2303T>G	ENSP00000432802.1:n.2303T>G
ENST00000526700.5:n.1332T>G
ENST00000530314.5:n.2835T>G
ENST00000564415.5:c.*1936T>G	ENSP00000456653.1:n.*1936T>G
ENST00000565715.1:c.218T>G	ENSP00000455693.1:p.Leu73Arg
NM_001195139.1:c.2093T>G	NP_001182068.1:p.Leu698Arg
NM_015386.2:c.2156T>G	NP_056201.2:p.Leu719Arg
XM_011522981.1:c.1730T>G	XP_011521283.1:p.Leu577Arg
XM_011522981.3:c.1730T>G	XP_011521283.1:p.Leu577Arg
XM_024450224.1:c.1175T>G	XP_024305992.1:p.Leu392Arg
XR_933266.2:n.2102T>G
NM_015386.3:c.2156T>G MANE Select	NP_056201.2:p.Leu719Arg
NM_001195139.2:c.2081T>G	NP_001182068.2:p.Leu694Arg
NM_001365426.1:c.1730T>G	NP_001352355.1:p.Leu577Arg
NR_158212.1:n.2115T>G