Canonical Allele Identifier: CA190946
Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185079
dbSNP Id: rs786201912

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214792363G>A , CM000664.2:g.214792363G>A GRCh38
NC_000002.11:g.215657087G>A , CM000664.1:g.215657087G>A GRCh37
NC_000002.10:g.215365332G>A NCBI36
NG_012047.2:g.22342C>T
NG_012047.3:g.22349C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000260947.9:c.298C>T MANE Select ENSP00000260947.4:p.Gln100Ter
ENST00000421162.2:c.215+4698C>T ENSP00000392245.2:p.=
ENST00000613192.2:c.158+17049C>T ENSP00000483275.2:p.=
ENST00000613374.5:c.158+17049C>T ENSP00000484464.1:p.=
ENST00000613706.5:c.298C>T ENSP00000484976.2:p.Gln100Ter
ENST00000617164.5:c.241C>T ENSP00000480470.1:p.Gln81Ter
ENST00000619009.5:c.298C>T ENSP00000482293.1:p.Gln100Ter
ENST00000650978.1:n.140C>T
ENST00000260947.8:c.298C>T ENSP00000260947.4:p.Gln100Ter
ENST00000421162.1:c.215+4698C>T ENSP00000392245.1:p.=
ENST00000455743.5:c.215+4698C>T ENSP00000412186.1:p.=
ENST00000471787.1:n.260-10854C>T
ENST00000613192.1:c.73+17049C>T ENSP00000483275.1:p.=
ENST00000613374.4:c.158+17049C>T ENSP00000484464.1:p.=
ENST00000613706.4:c.215+4698C>T ENSP00000484976.1:p.=
ENST00000617164.4:c.241C>T ENSP00000480470.1:p.Gln81Ter
ENST00000619009.4:c.298C>T ENSP00000482293.1:p.Gln100Ter
ENST00000620057.4:c.298C>T ENSP00000481988.1:p.Gln100Ter
NM_000465.3:c.298C>T NP_000456.2:p.Gln100Ter
NM_001282543.1:c.241C>T NP_001269472.1:p.Gln81Ter
NM_001282545.1:c.215+4698C>T NP_001269474.1:p.=
NM_001282548.1:c.158+17049C>T NP_001269477.1:p.=
NM_001282549.1:c.298C>T NP_001269478.1:p.Gln100Ter
NR_104212.1:n.357+4698C>T
NR_104215.1:n.301-10854C>T
NR_104216.1:n.440C>T
XM_011511567.1:c.244C>T XP_011509869.1:p.Gln82Ter
XM_011511568.1:c.298C>T XP_011509870.1:p.Gln100Ter
XM_017004613.1:c.397C>T XP_016860102.1:p.Gln133Ter
XM_017004614.1:c.397C>T XP_016860103.1:p.Gln133Ter
XR_002959322.1:n.488C>T
NM_000465.4:c.298C>T MANE Select NP_000456.2:p.Gln100Ter
NM_001282543.2:c.241C>T NP_001269472.1:p.Gln81Ter
NM_001282545.2:c.215+4698C>T NP_001269474.1:p.=
NM_001282548.2:c.158+17049C>T NP_001269477.1:p.=
NM_001282549.2:c.298C>T NP_001269478.1:p.Gln100Ter
NR_104212.2:n.329+4698C>T
NR_104215.2:n.273-10854C>T
NR_104216.2:n.412C>T