Canonical Allele Identifier: CA1327045337

Gene: BARD1

Linked Data

• dbSNP Id: rs1692178014
• gnomAD v4: 2-214728498-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728498A>C , CM000664.2:g.214728498A>C	GRCh38
NC_000002.11:g.215593222A>C , CM000664.1:g.215593222A>C	GRCh37
NC_000002.10:g.215301467A>C	NCBI36
NG_012047.2:g.86207T>G
NG_012047.3:g.86214T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.*178T>G MANE Select	ENSP00000260947.4:n.*178T>G
ENST00000260947.8:c.*178T>G	ENSP00000260947.4:n.*178T>G
ENST00000471590.5:n.847T>G
ENST00000613374.4:c.*178T>G	ENSP00000484464.1:n.*178T>G
ENST00000613706.4:c.*178T>G	ENSP00000484976.1:n.*178T>G
ENST00000617164.4:c.*178T>G	ENSP00000480470.1:n.*178T>G
ENST00000619009.4:c.*178T>G	ENSP00000482293.1:n.*178T>G
NM_000465.3:c.*178T>G	NP_000456.2:n.*178T>G
NM_001282543.1:c.*178T>G	NP_001269472.1:n.*178T>G
NM_001282545.1:c.*178T>G	NP_001269474.1:n.*178T>G
NM_001282548.1:c.*178T>G	NP_001269477.1:n.*178T>G
NM_001282549.1:c.*178T>G	NP_001269478.1:n.*178T>G
NR_104212.1:n.2505T>G
NR_104215.1:n.2448T>G
NR_104216.1:n.1704T>G
XM_011511567.1:c.*178T>G	XP_011509869.1:n.*178T>G
XM_017004613.1:c.*178T>G	XP_016860102.1:n.*178T>G
NM_000465.4:c.*178T>G MANE Select	NP_000456.2:n.*178T>G
NM_001282543.2:c.*178T>G	NP_001269472.1:n.*178T>G
NM_001282545.2:c.*178T>G	NP_001269474.1:n.*178T>G
NM_001282548.2:c.*178T>G	NP_001269477.1:n.*178T>G
NM_001282549.2:c.*178T>G	NP_001269478.1:n.*178T>G
NR_104212.2:n.2477T>G
NR_104215.2:n.2420T>G
NR_104216.2:n.1676T>G