Canonical Allele Identifier: CA396578184

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515322C>A (hg19) ; chr16:g.70481419C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481419C>A , CM000678.2:g.70481419C>A	GRCh38
NC_000016.9:g.70515322C>A , CM000678.1:g.70515322C>A	GRCh37
NC_000016.8:g.69072823C>A	NCBI36
NG_027529.1:g.47136G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2251G>T	ENSP00000461912.2:n.*2251G>T
ENST00000703106.1:c.2220G>T	ENSP00000515173.1:n.2220G>T
ENST00000703107.1:c.*2104G>T	ENSP00000515174.1:n.*2104G>T
ENST00000703108.1:c.*623G>T	ENSP00000515175.1:n.*623G>T
ENST00000703109.1:c.2208G>T	ENSP00000515176.1:p.Trp736Cys
ENST00000703110.1:c.*1677G>T	ENSP00000515177.1:n.*1677G>T
ENST00000703111.1:n.2458G>T
ENST00000703112.1:n.3119G>T
ENST00000703113.1:c.*1588G>T	ENSP00000515178.1:n.*1588G>T
ENST00000703114.1:c.*824G>T	ENSP00000515179.1:n.*824G>T
ENST00000703115.1:c.1288G>T	ENSP00000515180.1:n.1288G>T
ENST00000323786.10:c.2175G>T MANE Select	ENSP00000315775.5:p.Trp725Cys
ENST00000564415.6:c.*1955G>T	ENSP00000456653.2:n.*1955G>T
ENST00000674443.1:c.2100G>T	ENSP00000501405.1:p.Trp700Cys
ENST00000323786.9:c.2175G>T	ENSP00000315775.5:p.Trp725Cys
ENST00000393612.8:c.2112G>T	ENSP00000377236.5:p.Trp704Cys
ENST00000482252.5:c.2322G>T	ENSP00000432802.1:n.2322G>T
ENST00000526700.5:n.1351G>T
ENST00000530314.5:n.2854G>T
ENST00000564415.5:c.*1955G>T	ENSP00000456653.1:n.*1955G>T
ENST00000565715.1:c.237G>T	ENSP00000455693.1:p.Trp79Cys
NM_001195139.1:c.2112G>T	NP_001182068.1:p.Trp704Cys
NM_015386.2:c.2175G>T	NP_056201.2:p.Trp725Cys
XM_011522981.1:c.1749G>T	XP_011521283.1:p.Trp583Cys
XM_011522981.3:c.1749G>T	XP_011521283.1:p.Trp583Cys
XM_024450224.1:c.1194G>T	XP_024305992.1:p.Trp398Cys
XR_933266.2:n.2121G>T
NM_015386.3:c.2175G>T MANE Select	NP_056201.2:p.Trp725Cys
NM_001195139.2:c.2100G>T	NP_001182068.2:p.Trp700Cys
NM_001365426.1:c.1749G>T	NP_001352355.1:p.Trp583Cys
NR_158212.1:n.2134G>T