Canonical Allele Identifier: CA396578555

Gene: COG4

Linked Data

• MyVariant Identifiers: chr16:g.70515374A>C (hg19) ; chr16:g.70481471A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70481471A>C , CM000678.2:g.70481471A>C	GRCh38
NC_000016.9:g.70515374A>C , CM000678.1:g.70515374A>C	GRCh37
NC_000016.8:g.69072875A>C	NCBI36
NG_027529.1:g.47084T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*2199T>G	ENSP00000461912.2:n.*2199T>G
ENST00000703106.1:c.2168T>G	ENSP00000515173.1:n.2168T>G
ENST00000703107.1:c.*2052T>G	ENSP00000515174.1:n.*2052T>G
ENST00000703108.1:c.*571T>G	ENSP00000515175.1:n.*571T>G
ENST00000703109.1:c.2156T>G	ENSP00000515176.1:p.Phe719Cys
ENST00000703110.1:c.*1625T>G	ENSP00000515177.1:n.*1625T>G
ENST00000703111.1:n.2406T>G
ENST00000703112.1:n.3067T>G
ENST00000703113.1:c.*1536T>G	ENSP00000515178.1:n.*1536T>G
ENST00000703114.1:c.*772T>G	ENSP00000515179.1:n.*772T>G
ENST00000703115.1:c.1236T>G	ENSP00000515180.1:n.1236T>G
ENST00000323786.10:c.2123T>G MANE Select	ENSP00000315775.5:p.Phe708Cys
ENST00000564415.6:c.*1903T>G	ENSP00000456653.2:n.*1903T>G
ENST00000674443.1:c.2048T>G	ENSP00000501405.1:p.Phe683Cys
ENST00000323786.9:c.2123T>G	ENSP00000315775.5:p.Phe708Cys
ENST00000393612.8:c.2060T>G	ENSP00000377236.5:p.Phe687Cys
ENST00000482252.5:c.2270T>G	ENSP00000432802.1:n.2270T>G
ENST00000526700.5:n.1299T>G
ENST00000530314.5:n.2802T>G
ENST00000564415.5:c.*1903T>G	ENSP00000456653.1:n.*1903T>G
ENST00000565715.1:c.185T>G	ENSP00000455693.1:p.Phe62Cys
NM_001195139.1:c.2060T>G	NP_001182068.1:p.Phe687Cys
NM_015386.2:c.2123T>G	NP_056201.2:p.Phe708Cys
XM_011522981.1:c.1697T>G	XP_011521283.1:p.Phe566Cys
XM_011522981.3:c.1697T>G	XP_011521283.1:p.Phe566Cys
XM_024450224.1:c.1142T>G	XP_024305992.1:p.Phe381Cys
XR_001751889.1:n.2006T>G
XR_933266.2:n.2069T>G
NM_015386.3:c.2123T>G MANE Select	NP_056201.2:p.Phe708Cys
NM_001195139.2:c.2048T>G	NP_001182068.2:p.Phe683Cys
NM_001365426.1:c.1697T>G	NP_001352355.1:p.Phe566Cys
NR_158212.1:n.2082T>G