Canonical Allele Identifier: CA1042202067

Gene: BARD1

Linked Data

• dbSNP Id: rs1692315147
• gnomAD v3: 2-214730627-A-G
• gnomAD v4: 2-214730627-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214730627A>G , CM000664.2:g.214730627A>G	GRCh38
NC_000002.11:g.215595351A>G , CM000664.1:g.215595351A>G	GRCh37
NC_000002.10:g.215303596A>G	NCBI36
NG_012047.2:g.84078T>C
NG_012047.3:g.84085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.9:c.1904-119T>C MANE Select	ENSP00000260947.4:n.1904-119T>C
ENST00000421162.2:c.551-119T>C	ENSP00000392245.2:n.551-119T>C
ENST00000613192.2:c.159-119T>C	ENSP00000483275.2:n.159-119T>C
ENST00000613374.5:c.494-119T>C	ENSP00000484464.1:n.494-119T>C
ENST00000613706.5:c.1496-119T>C	ENSP00000484976.2:n.1496-119T>C
ENST00000617164.5:c.1847-119T>C	ENSP00000480470.1:n.1847-119T>C
ENST00000619009.5:c.365-119T>C	ENSP00000482293.1:n.365-119T>C
ENST00000650978.1:c.3279-119T>C
ENST00000260947.8:c.1904-119T>C	ENSP00000260947.4:n.1904-119T>C
ENST00000421162.1:c.551-119T>C	ENSP00000392245.1:n.551-119T>C
ENST00000455743.5:c.*1524-119T>C	ENSP00000412186.1:n.*1524-119T>C
ENST00000471590.5:n.239-119T>C
ENST00000613192.1:c.74-119T>C	ENSP00000483275.1:n.74-119T>C
ENST00000613374.4:c.494-119T>C	ENSP00000484464.1:n.494-119T>C
ENST00000613706.4:c.551-119T>C	ENSP00000484976.1:n.551-119T>C
ENST00000617164.4:c.1847-119T>C	ENSP00000480470.1:n.1847-119T>C
ENST00000619009.4:c.365-119T>C	ENSP00000482293.1:n.365-119T>C
ENST00000620057.4:c.*570-119T>C	ENSP00000481988.1:n.*570-119T>C
NM_000465.3:c.1904-119T>C	NP_000456.2:n.1904-119T>C
NM_001282543.1:c.1847-119T>C	NP_001269472.1:n.1847-119T>C
NM_001282545.1:c.551-119T>C	NP_001269474.1:n.551-119T>C
NM_001282548.1:c.494-119T>C	NP_001269477.1:n.494-119T>C
NM_001282549.1:c.365-119T>C	NP_001269478.1:n.365-119T>C
NR_104212.1:n.1897-119T>C
NR_104215.1:n.1840-119T>C
NR_104216.1:n.1096-119T>C
XM_011511567.1:c.1850-119T>C	XP_011509869.1:n.1850-119T>C
XM_017004613.1:c.2003-119T>C	XP_016860102.1:n.2003-119T>C
XR_002959322.1:n.2094-119T>C
NM_000465.4:c.1904-119T>C MANE Select	NP_000456.2:n.1904-119T>C
NM_001282543.2:c.1847-119T>C	NP_001269472.1:n.1847-119T>C
NM_001282545.2:c.551-119T>C	NP_001269474.1:n.551-119T>C
NM_001282548.2:c.494-119T>C	NP_001269477.1:n.494-119T>C
NM_001282549.2:c.365-119T>C	NP_001269478.1:n.365-119T>C
NR_104212.2:n.1869-119T>C
NR_104215.2:n.1812-119T>C
NR_104216.2:n.1068-119T>C