Canonical Allele Identifier: CA6293305
Gene: RNF214 HGNC NCBI
ClinVar RCV:
RCV004446630
ClinVar Variation:
3155301
dbSNP:
761891854
gnomAD v2:
11:117105067 T / C
gnomAD v3:
11:117234351 T / C
gnomAD v4:
chr11-117234351-T-C
Joint Max Group AF 0.00005785 (EAS)
Genomes Max Group AF 0.00015655 (EAS)
Exomes Max Group AF 0.00002004 (EAS)
MyVariant.info:
GRCh38 chr11:g.117234351T>C
GRCh37 chr11:g.117105067T>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.117234351T>C , CM000673.2:g.117234351T>C GRCh38
NC_000011.9:g.117105067T>C , CM000673.1:g.117105067T>C GRCh37
NC_000011.8:g.116610277T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000300650.9:c.79T>C MANE Select ENSP00000300650.4:p.Ser27Pro
ENST00000300650.8:c.79T>C ENSP00000300650.4:p.Ser27Pro
ENST00000529869.1:n.109T>C
ENST00000530849.1:c.79T>C ENSP00000432903.1:p.Ser27Pro
ENST00000531287.5:c.79T>C ENSP00000435361.1:p.Ser27Pro
ENST00000531452.5:c.79T>C ENSP00000431643.1:p.Ser27Pro
ENST00000534428.5:c.79T>C ENSP00000434186.1:p.Ser27Pro
NM_001077239.1:c.79T>C NP_001070707.1:p.Ser27Pro
NM_001278249.1:c.79T>C NP_001265178.1:p.Ser27Pro
NM_207343.3:c.79T>C NP_997226.2:p.Ser27Pro
XR_947817.1:n.127T>C
XR_001747824.2:n.112T>C
NM_207343.4:c.79T>C MANE Select NP_997226.2:p.Ser27Pro
NM_001077239.2:c.79T>C NP_001070707.1:p.Ser27Pro
NM_001278249.2:c.79T>C NP_001265178.1:p.Ser27Pro
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