Canonical Allele Identifier: CA204469
Gene: RNF170 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.42850904C>T
GRCh37 chr8:g.42706047C>T
Revel Score:
ENST00000319104 0.105
gnomAD v3:
8:42850904 C / T
gnomAD v4:
chr8-42850904-C-T
Joint Max Group AF 2.9e-7 (NFE)
Exomes Max Group AF 3.1e-7 (NFE)
ClinVar RCV:
RCV000190504
ClinVar Variation:
208491
dbSNP:
797045006
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42850904C>T , CM000670.2:g.42850904C>T GRCh38
NC_000008.10:g.42706047C>T , CM000670.1:g.42706047C>T GRCh37
NC_000008.9:g.42825204C>T NCBI36
NG_032868.1:g.50820G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319104.7:c.490G>A ENSP00000326138.3:p.Gly164Arg
NM_001160224.1:c.490G>A NP_001153696.1:p.Gly164Arg
NM_001160224.2:c.490G>A NP_001153696.1:p.Gly164Arg
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