Canonical Allele Identifier: CA1042198553

Gene: BARD1

Linked Data

• dbSNP Id: rs1696492312
• gnomAD v3: 2-214809703-G-C
• gnomAD v4: 2-214809703-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214809703G>C , CM000664.2:g.214809703G>C	GRCh38
NC_000002.11:g.215674427G>C , CM000664.1:g.215674427G>C	GRCh37
NC_000002.10:g.215382672G>C	NCBI36
NG_012047.2:g.5002C>G
NG_012047.3:g.5009C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260947.8:c.-134C>G	ENSP00000260947.4:n.-134C>G
ENST00000613374.4:c.-134C>G	ENSP00000484464.1:n.-134C>G
ENST00000613706.4:c.-134C>G	ENSP00000484976.1:n.-134C>G
ENST00000617164.4:c.-134C>G	ENSP00000480470.1:n.-134C>G
ENST00000619009.4:c.-134C>G	ENSP00000482293.1:n.-134C>G
NM_000465.3:c.-134C>G	NP_000456.2:n.-134C>G
NM_001282543.1:c.-134C>G	NP_001269472.1:n.-134C>G
NM_001282545.1:c.-134C>G	NP_001269474.1:n.-134C>G
NM_001282548.1:c.-134C>G	NP_001269477.1:n.-134C>G
NM_001282549.1:c.-134C>G	NP_001269478.1:n.-134C>G
NR_104212.1:n.9C>G
NR_104215.1:n.9C>G
NR_104216.1:n.9C>G
XM_011511568.1:c.-134C>G	XP_011509870.1:n.-134C>G