Canonical Allele Identifier: CA2780921
Gene: RNF168 HGNC NCBI

Linked Data

ClinVar Variation Id: 489117
ClinVar RCV Id: RCV000578904 RCV002497224
dbSNP Id: rs148275050
ExAC: 3:196214335 G / A
gnomAD v2: 3-196214335-G-A
gnomAD v3: 3-196487464-G-A
gnomAD v4: 3-196487464-G-A
COSMIC: COSM1043040
MyVariant Identifiers: chr3:g.196214335G>A (hg19) chr3:g.196487464G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.196487464G>A , CM000665.2:g.196487464G>A GRCh38
NC_000003.11:g.196214335G>A , CM000665.1:g.196214335G>A GRCh37
NC_000003.10:g.197698732G>A NCBI36
NG_023425.1:g.21305C>T , LRG_185:g.21305C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318037.3:c.493C>T MANE Select ENSP00000320898.3:p.Arg165Ter
ENST00000437070.1:c.*65C>T ENSP00000396712.1:n.*65C>T
NM_152617.3:c.493C>T , LRG_185t1:c.493C>T NP_689830.2:p.Arg165Ter
NM_152617.4:c.493C>T MANE Select NP_689830.2:p.Arg165Ter
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