Canonical Allele Identifier: CA204469
Gene: RNF170 HGNC NCBI

Linked Data

ClinVar Variation Id: 208491
ClinVar RCV Id: RCV000190504
dbSNP Id: rs797045006
gnomAD v3: 8-42850904-C-T
gnomAD v4: 8-42850904-C-T
MyVariant Identifiers: chr8:g.42706047C>T (hg19) chr8:g.42850904C>T (hg38)
PubMed: PMID:21115467
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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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