Canonical Allele Identifier: CA2932435
Gene: REST HGNC NCBI

Linked Data

ClinVar Variation Id: 789137
ClinVar RCV Id: RCV000971702
dbSNP Id: rs3796530
ExAC: 4:57797253 G / A
gnomAD v2: 4-57797253-G-A
gnomAD v3: 4-56931087-G-A
gnomAD v4: 4-56931087-G-A
MyVariant Identifiers: chr4:g.57797253G>A (hg19) chr4:g.56931087G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56931087G>A , CM000666.2:g.56931087G>A GRCh38
NC_000004.11:g.57797253G>A , CM000666.1:g.57797253G>A GRCh37
NC_000004.10:g.57492010G>A NCBI36
NG_029447.1:g.28212G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000309042.12:c.2229G>A MANE Select ENSP00000311816.7:p.Glu743=
ENST00000514063.2:c.*1256G>A ENSP00000501649.1:n.*1256G>A
ENST00000611211.2:c.*79-981G>A ENSP00000479151.2:n.*79-981G>A
ENST00000616975.5:c.*1256G>A ENSP00000484058.1:n.*1256G>A
ENST00000619101.5:c.*1256G>A ENSP00000484836.2:n.*1256G>A
ENST00000638187.2:c.2145G>A ENSP00000492006.2:p.Glu715=
ENST00000640168.2:c.898+19551G>A ENSP00000490969.1:n.898+19551G>A
ENST00000640343.2:c.982+11217G>A ENSP00000492813.1:n.982+11217G>A
ENST00000675105.1:c.2229G>A ENSP00000502313.1:p.Glu743=
ENST00000675341.1:c.1782G>A ENSP00000502488.1:p.Glu594=
ENST00000309042.11:c.2229G>A ENSP00000311816.7:p.Glu743=
ENST00000619101.4:c.2229G>A ENSP00000484836.1:p.Glu743=
ENST00000622863.4:c.587-707G>A ENSP00000481650.1:n.587-707G>A
NM_001193508.1:c.2229G>A NP_001180437.1:p.Glu743=
NM_005612.4:c.2229G>A NP_005603.3:p.Glu743=
XM_005265760.2:c.1263G>A XP_005265817.1:p.Glu421=
XM_011534401.1:c.2229G>A XP_011532703.1:p.Glu743=
XM_011534402.1:c.1251G>A XP_011532704.1:p.Glu417=
NM_001363453.1:c.2229G>A NP_001350382.1:p.Glu743=
XM_017008527.1:c.2145G>A XP_016864016.1:p.Glu715=
NM_005612.5:c.2229G>A MANE Select NP_005603.3:p.Glu743=
NM_001363453.2:c.2229G>A NP_001350382.1:p.Glu743=
Search 100 bp 5'
Search 100 bp 3'