Canonical Allele Identifier: CA298444
Gene: BARD1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 182036
dbSNP Id: rs730881411

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214781426G>A , CM000664.2:g.214781426G>A GRCh38
NC_000002.11:g.215646150G>A , CM000664.1:g.215646150G>A GRCh37
NC_000002.10:g.215354395G>A NCBI36
NG_012047.2:g.33279C>T

Transcript Alleles

HGVS Amino-acid change
NM_000465.3:c.448C>T VV NP_000456.2:p.Arg150Ter
NM_001282543.1:c.391C>T VV NP_001269472.1:p.Arg131Ter
NM_001282545.1:c.215+15635C>T VV NP_001269474.1:p.=
NM_001282548.1:c.158+27986C>T VV NP_001269477.1:p.=
NM_001282549.1:c.364+10871C>T VV NP_001269478.1:p.=
NR_104212.1:n.441C>T
NR_104215.1:n.384C>T
NR_104216.1:n.506+10871C>T
XM_011511567.1:c.394C>T XP_011509869.1:p.Arg132Ter
XM_011511568.1:c.448C>T XP_011509870.1:p.Arg150Ter
XM_017004613.1:c.547C>T XP_016860102.1:p.Arg183Ter
XM_017004614.1:c.547C>T XP_016860103.1:p.Arg183Ter
XR_002959322.1:n.638C>T
NM_000465.4:c.448C>T VV MANE Preferred NP_000456.2:p.Arg150Ter
ENST00000260947.8:c.448C>T ENSP00000260947.4:p.Arg150Ter
ENST00000421162.1:c.215+15635C>T ENSP00000392245.1:p.=
ENST00000455743.5:c.*68C>T ENSP00000412186.1:p.=
ENST00000471787.1:n.343C>T
ENST00000613192.1:c.73+27986C>T ENSP00000483275.1:p.=
ENST00000613374.4:c.158+27986C>T ENSP00000484464.1:p.=
ENST00000613706.4:c.215+15635C>T ENSP00000484976.1:p.=
ENST00000617164.4:c.391C>T ENSP00000480470.1:p.Arg131Ter
ENST00000619009.4:c.364+10871C>T ENSP00000482293.1:p.=
ENST00000620057.4:c.364+10871C>T ENSP00000481988.1:p.=