Canonical Allele Identifier: CA2780920
Gene: RNF168 HGNC NCBI

Linked Data

ClinVar Variation Id: 1346502
ClinVar RCV Id: RCV002030049
dbSNP Id: rs768744096
ExAC: 3:196214334 C / T
gnomAD v2: 3-196214334-C-T
gnomAD v3: 3-196487463-C-T
gnomAD v4: 3-196487463-C-T
MyVariant Identifiers: chr3:g.196214334C>T (hg19) chr3:g.196487463C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.196487463C>T , CM000665.2:g.196487463C>T GRCh38
NC_000003.11:g.196214334C>T , CM000665.1:g.196214334C>T GRCh37
NC_000003.10:g.197698731C>T NCBI36
NG_023425.1:g.21306G>A , LRG_185:g.21306G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318037.3:c.494G>A MANE Select ENSP00000320898.3:p.Arg165Gln
ENST00000437070.1:c.*66G>A ENSP00000396712.1:n.*66G>A
NM_152617.3:c.494G>A , LRG_185t1:c.494G>A NP_689830.2:p.Arg165Gln
NM_152617.4:c.494G>A MANE Select NP_689830.2:p.Arg165Gln
Search 100 bp 5'
Search 100 bp 3'