Canonical Allele Identifier: CA396578110

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515311T>C (hg19) ; chr16:g.70481408T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481408T>C , CM000678.2:g.70481408T>C	GRCh38
NC_000016.9:g.70515311T>C , CM000678.1:g.70515311T>C	GRCh37
NC_000016.8:g.69072812T>C	NCBI36
NG_027529.1:g.47147A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2262A>G	ENSP00000461912.2:n.*2262A>G
ENST00000703106.1:c.2231A>G	ENSP00000515173.1:n.2231A>G
ENST00000703107.1:c.*2115A>G	ENSP00000515174.1:n.*2115A>G
ENST00000703108.1:c.*634A>G	ENSP00000515175.1:n.*634A>G
ENST00000703109.1:c.2219A>G	ENSP00000515176.1:p.Asp740Gly
ENST00000703110.1:c.*1688A>G	ENSP00000515177.1:n.*1688A>G
ENST00000703111.1:n.2469A>G
ENST00000703112.1:n.3130A>G
ENST00000703113.1:c.*1599A>G	ENSP00000515178.1:n.*1599A>G
ENST00000703114.1:c.*835A>G	ENSP00000515179.1:n.*835A>G
ENST00000703115.1:c.1299A>G	ENSP00000515180.1:n.1299A>G
ENST00000323786.10:c.2186A>G MANE Select	ENSP00000315775.5:p.Asp729Gly
ENST00000564415.6:c.*1966A>G	ENSP00000456653.2:n.*1966A>G
ENST00000674443.1:c.2111A>G	ENSP00000501405.1:p.Asp704Gly
ENST00000323786.9:c.2186A>G	ENSP00000315775.5:p.Asp729Gly
ENST00000393612.8:c.2123A>G	ENSP00000377236.5:p.Asp708Gly
ENST00000482252.5:c.2333A>G	ENSP00000432802.1:n.2333A>G
ENST00000526700.5:n.1362A>G
ENST00000530314.5:n.2865A>G
ENST00000564415.5:c.*1966A>G	ENSP00000456653.1:n.*1966A>G
ENST00000565715.1:c.248A>G	ENSP00000455693.1:p.Asp83Gly
NM_001195139.1:c.2123A>G	NP_001182068.1:p.Asp708Gly
NM_015386.2:c.2186A>G	NP_056201.2:p.Asp729Gly
XM_011522981.1:c.1760A>G	XP_011521283.1:p.Asp587Gly
XM_011522981.3:c.1760A>G	XP_011521283.1:p.Asp587Gly
XM_024450224.1:c.1205A>G	XP_024305992.1:p.Asp402Gly
XR_933266.2:n.2132A>G
NM_015386.3:c.2186A>G MANE Select	NP_056201.2:p.Asp729Gly
NM_001195139.2:c.2111A>G	NP_001182068.2:p.Asp704Gly
NM_001365426.1:c.1760A>G	NP_001352355.1:p.Asp587Gly
NR_158212.1:n.2145A>G