Canonical Allele Identifier: CA396578350

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515345A>C (hg19) ; chr16:g.70481442A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481442A>C , CM000678.2:g.70481442A>C	GRCh38
NC_000016.9:g.70515345A>C , CM000678.1:g.70515345A>C	GRCh37
NC_000016.8:g.69072846A>C	NCBI36
NG_027529.1:g.47113T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2228T>G	ENSP00000461912.2:n.*2228T>G
ENST00000703106.1:c.2197T>G	ENSP00000515173.1:n.2197T>G
ENST00000703107.1:c.*2081T>G	ENSP00000515174.1:n.*2081T>G
ENST00000703108.1:c.*600T>G	ENSP00000515175.1:n.*600T>G
ENST00000703109.1:c.2185T>G	ENSP00000515176.1:p.Tyr729Asp
ENST00000703110.1:c.*1654T>G	ENSP00000515177.1:n.*1654T>G
ENST00000703111.1:n.2435T>G
ENST00000703112.1:n.3096T>G
ENST00000703113.1:c.*1565T>G	ENSP00000515178.1:n.*1565T>G
ENST00000703114.1:c.*801T>G	ENSP00000515179.1:n.*801T>G
ENST00000703115.1:c.1265T>G	ENSP00000515180.1:n.1265T>G
ENST00000323786.10:c.2152T>G MANE Select	ENSP00000315775.5:p.Tyr718Asp
ENST00000564415.6:c.*1932T>G	ENSP00000456653.2:n.*1932T>G
ENST00000674443.1:c.2077T>G	ENSP00000501405.1:p.Tyr693Asp
ENST00000323786.9:c.2152T>G	ENSP00000315775.5:p.Tyr718Asp
ENST00000393612.8:c.2089T>G	ENSP00000377236.5:p.Tyr697Asp
ENST00000482252.5:c.2299T>G	ENSP00000432802.1:n.2299T>G
ENST00000526700.5:n.1328T>G
ENST00000530314.5:n.2831T>G
ENST00000564415.5:c.*1932T>G	ENSP00000456653.1:n.*1932T>G
ENST00000565715.1:c.214T>G	ENSP00000455693.1:p.Tyr72Asp
NM_001195139.1:c.2089T>G	NP_001182068.1:p.Tyr697Asp
NM_015386.2:c.2152T>G	NP_056201.2:p.Tyr718Asp
XM_011522981.1:c.1726T>G	XP_011521283.1:p.Tyr576Asp
XM_011522981.3:c.1726T>G	XP_011521283.1:p.Tyr576Asp
XM_024450224.1:c.1171T>G	XP_024305992.1:p.Tyr391Asp
XR_933266.2:n.2098T>G
NM_015386.3:c.2152T>G MANE Select	NP_056201.2:p.Tyr718Asp
NM_001195139.2:c.2077T>G	NP_001182068.2:p.Tyr693Asp
NM_001365426.1:c.1726T>G	NP_001352355.1:p.Tyr576Asp
NR_158212.1:n.2111T>G