Canonical Allele Identifier: CA1139657675

Gene: BARD1

Linked Data

• ClinVar Variation Id: 917574
• ClinVar RCV Id: RCV001873646 ; RCV001174612 ; RCV002402523
• dbSNP Id: rs1693089932

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214745857G>C , CM000664.2:g.214745857G>C	GRCh38
NC_000002.11:g.215610581G>C , CM000664.1:g.215610581G>C	GRCh37
NC_000002.10:g.215318826G>C	NCBI36
NG_012047.2:g.68848C>G
NG_012047.3:g.68855C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1678-3C>G MANE Select	ENSP00000260947.4:n.1678-3C>G
ENST00000421162.2:c.325-3C>G	ENSP00000392245.2:n.325-3C>G
ENST00000613192.2:c.159-15349C>G	ENSP00000483275.2:n.159-15349C>G
ENST00000613374.5:c.268-3C>G	ENSP00000484464.1:n.268-3C>G
ENST00000613706.5:c.1270-3C>G	ENSP00000484976.2:n.1270-3C>G
ENST00000617164.5:c.1621-3C>G	ENSP00000480470.1:n.1621-3C>G
ENST00000619009.5:c.365-15349C>G	ENSP00000482293.1:n.365-15349C>G
ENST00000650978.1:c.3053-3C>G
ENST00000260947.8:c.1678-3C>G	ENSP00000260947.4:n.1678-3C>G
ENST00000421162.1:c.325-3C>G	ENSP00000392245.1:n.325-3C>G
ENST00000455743.5:c.*1298-3C>G	ENSP00000412186.1:n.*1298-3C>G
ENST00000465841.1:n.33-3C>G
ENST00000613192.1:c.74-15349C>G	ENSP00000483275.1:n.74-15349C>G
ENST00000613374.4:c.268-3C>G	ENSP00000484464.1:n.268-3C>G
ENST00000613706.4:c.325-3C>G	ENSP00000484976.1:n.325-3C>G
ENST00000617164.4:c.1621-3C>G	ENSP00000480470.1:n.1621-3C>G
ENST00000619009.4:c.365-15349C>G	ENSP00000482293.1:n.365-15349C>G
ENST00000620057.4:c.*344-3C>G	ENSP00000481988.1:n.*344-3C>G
NM_000465.3:c.1678-3C>G	NP_000456.2:n.1678-3C>G
NM_001282543.1:c.1621-3C>G	NP_001269472.1:n.1621-3C>G
NM_001282545.1:c.325-3C>G	NP_001269474.1:n.325-3C>G
NM_001282548.1:c.268-3C>G	NP_001269477.1:n.268-3C>G
NM_001282549.1:c.365-15349C>G	NP_001269478.1:n.365-15349C>G
NR_104212.1:n.1671-3C>G
NR_104215.1:n.1614-3C>G
NR_104216.1:n.870-3C>G
XM_011511567.1:c.1624-3C>G	XP_011509869.1:n.1624-3C>G
XM_011511568.1:c.1678-3C>G	XP_011509870.1:n.1678-3C>G
XM_017004613.1:c.1777-3C>G	XP_016860102.1:n.1777-3C>G
XM_017004614.1:c.1777-3C>G	XP_016860103.1:n.1777-3C>G
XR_002959322.1:n.1868-3C>G
NM_000465.4:c.1678-3C>G MANE Select	NP_000456.2:n.1678-3C>G
NM_001282543.2:c.1621-3C>G	NP_001269472.1:n.1621-3C>G
NM_001282545.2:c.325-3C>G	NP_001269474.1:n.325-3C>G
NM_001282548.2:c.268-3C>G	NP_001269477.1:n.268-3C>G
NM_001282549.2:c.365-15349C>G	NP_001269478.1:n.365-15349C>G
NR_104212.2:n.1643-3C>G
NR_104215.2:n.1586-3C>G
NR_104216.2:n.842-3C>G