Canonical Allele Identifier: CA396578100

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515310G>C (hg19) ; chr16:g.70481407G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481407G>C , CM000678.2:g.70481407G>C	GRCh38
NC_000016.9:g.70515310G>C , CM000678.1:g.70515310G>C	GRCh37
NC_000016.8:g.69072811G>C	NCBI36
NG_027529.1:g.47148C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2263C>G	ENSP00000461912.2:n.*2263C>G
ENST00000703106.1:c.2232C>G	ENSP00000515173.1:n.2232C>G
ENST00000703107.1:c.*2116C>G	ENSP00000515174.1:n.*2116C>G
ENST00000703108.1:c.*635C>G	ENSP00000515175.1:n.*635C>G
ENST00000703109.1:c.2220C>G	ENSP00000515176.1:p.Asp740Glu
ENST00000703110.1:c.*1689C>G	ENSP00000515177.1:n.*1689C>G
ENST00000703111.1:n.2470C>G
ENST00000703112.1:n.3131C>G
ENST00000703113.1:c.*1600C>G	ENSP00000515178.1:n.*1600C>G
ENST00000703114.1:c.*836C>G	ENSP00000515179.1:n.*836C>G
ENST00000703115.1:c.1300C>G	ENSP00000515180.1:n.1300C>G
ENST00000323786.10:c.2187C>G MANE Select	ENSP00000315775.5:p.Asp729Glu
ENST00000564415.6:c.*1967C>G	ENSP00000456653.2:n.*1967C>G
ENST00000674443.1:c.2112C>G	ENSP00000501405.1:p.Asp704Glu
ENST00000323786.9:c.2187C>G	ENSP00000315775.5:p.Asp729Glu
ENST00000393612.8:c.2124C>G	ENSP00000377236.5:p.Asp708Glu
ENST00000482252.5:c.2334C>G	ENSP00000432802.1:n.2334C>G
ENST00000526700.5:n.1363C>G
ENST00000530314.5:n.2866C>G
ENST00000564415.5:c.*1967C>G	ENSP00000456653.1:n.*1967C>G
ENST00000565715.1:c.249C>G	ENSP00000455693.1:p.Asp83Glu
NM_001195139.1:c.2124C>G	NP_001182068.1:p.Asp708Glu
NM_015386.2:c.2187C>G	NP_056201.2:p.Asp729Glu
XM_011522981.1:c.1761C>G	XP_011521283.1:p.Asp587Glu
XM_011522981.3:c.1761C>G	XP_011521283.1:p.Asp587Glu
XM_024450224.1:c.1206C>G	XP_024305992.1:p.Asp402Glu
XR_933266.2:n.2133C>G
NM_015386.3:c.2187C>G MANE Select	NP_056201.2:p.Asp729Glu
NM_001195139.2:c.2112C>G	NP_001182068.2:p.Asp704Glu
NM_001365426.1:c.1761C>G	NP_001352355.1:p.Asp587Glu
NR_158212.1:n.2146C>G