Canonical Allele Identifier: CA1327045359

Gene: BARD1

Linked Data

• dbSNP Id: rs1692180234
• gnomAD v4: 2-214728535-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214728535G>C , CM000664.2:g.214728535G>C	GRCh38
NC_000002.11:g.215593259G>C , CM000664.1:g.215593259G>C	GRCh37
NC_000002.10:g.215301504G>C	NCBI36
NG_012047.2:g.86170C>G
NG_012047.3:g.86177C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000260947.9:c.*141C>G MANE Select	ENSP00000260947.4:n.*141C>G
ENST00000260947.8:c.*141C>G	ENSP00000260947.4:n.*141C>G
ENST00000471590.5:n.810C>G
ENST00000613374.4:c.*141C>G	ENSP00000484464.1:n.*141C>G
ENST00000613706.4:c.*141C>G	ENSP00000484976.1:n.*141C>G
ENST00000617164.4:c.*141C>G	ENSP00000480470.1:n.*141C>G
ENST00000619009.4:c.*141C>G	ENSP00000482293.1:n.*141C>G
NM_000465.3:c.*141C>G	NP_000456.2:n.*141C>G
NM_001282543.1:c.*141C>G	NP_001269472.1:n.*141C>G
NM_001282545.1:c.*141C>G	NP_001269474.1:n.*141C>G
NM_001282548.1:c.*141C>G	NP_001269477.1:n.*141C>G
NM_001282549.1:c.*141C>G	NP_001269478.1:n.*141C>G
NR_104212.1:n.2468C>G
NR_104215.1:n.2411C>G
NR_104216.1:n.1667C>G
XM_011511567.1:c.*141C>G	XP_011509869.1:n.*141C>G
XM_017004613.1:c.*141C>G	XP_016860102.1:n.*141C>G
NM_000465.4:c.*141C>G MANE Select	NP_000456.2:n.*141C>G
NM_001282543.2:c.*141C>G	NP_001269472.1:n.*141C>G
NM_001282545.2:c.*141C>G	NP_001269474.1:n.*141C>G
NM_001282548.2:c.*141C>G	NP_001269477.1:n.*141C>G
NM_001282549.2:c.*141C>G	NP_001269478.1:n.*141C>G
NR_104212.2:n.2440C>G
NR_104215.2:n.2383C>G
NR_104216.2:n.1639C>G