Canonical Allele Identifier: CA114685
Gene: RNF135 HGNC NCBI
COSMIC:
COSM277082
MyVariant.info:
GRCh38 chr17:g.30998749G>A
GRCh37 chr17:g.29325767G>A
Revel Score:
ENST00000328381 (MANE Select) 0.360
ENST00000535605 0.360
gnomAD v2:
17:29325767 G / A
gnomAD v3:
17:30998749 G / A
gnomAD v4:
chr17-30998749-G-A
Joint Max Group AF 0.0001367 (NFE)
Genomes Max Group AF 0.00008885 (AMR)
Exomes Max Group AF 0.00013619 (NFE)
ClinVar RCV:
RCV000001029
ClinVar Variation:
978
dbSNP:
121918162
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.30998749G>A , CM000679.2:g.30998749G>A GRCh38
NC_000017.10:g.29325767G>A , CM000679.1:g.29325767G>A GRCh37
NC_000017.9:g.26349893G>A NCBI36
NG_011701.1:g.32812G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000328381.10:c.857G>A MANE Select ENSP00000328340.5:p.Arg286His
ENST00000324689.8:c.*61G>A ENSP00000323693.4:n.*61G>A
ENST00000328381.9:c.857G>A ENSP00000328340.5:p.Arg286His
ENST00000443677.6:c.*61G>A ENSP00000411965.2:n.*61G>A
ENST00000535306.6:c.*61G>A ENSP00000440470.2:n.*61G>A
NM_001184992.1:c.*61G>A NP_001171921.1:n.*61G>A
NM_032322.3:c.857G>A NP_115698.3:p.Arg286His
NM_197939.1:c.*61G>A NP_922921.1:n.*61G>A
XM_005258043.3:c.314G>A XP_005258100.1:p.Arg105His
XM_006722138.2:c.536G>A XP_006722201.1:p.Arg179His
XM_017025223.1:c.314G>A XP_016880712.1:p.Arg105His
XM_024451000.1:c.314G>A XP_024306768.1:p.Arg105His
XM_024451001.1:c.314G>A XP_024306769.1:p.Arg105His
XR_002958076.1:n.1190G>A
XR_002958077.1:n.1125G>A
XR_002958078.1:n.962G>A
NM_032322.4:c.857G>A MANE Select NP_115698.3:p.Arg286His
NM_001184992.2:c.*61G>A NP_001171921.1:n.*61G>A
NM_197939.2:c.*61G>A NP_922921.1:n.*61G>A
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