Canonical Allele Identifier: CA337215

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 216674
• ClinVar RCV Id: RCV000197445 ; RCV001072597 ; RCV001190128
• dbSNP Id: rs863224764
• gnomAD v4: 17-43057060-C-G
• MyVariant Identifiers: chr17:g.41209077C>G (hg19) ; chr17:g.43057060C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057060C>G , CM000679.2:g.43057060C>G	GRCh38
NC_000017.10:g.41209077C>G , CM000679.1:g.41209077C>G	GRCh37
NC_000017.9:g.38462603C>G	NCBI36
NG_005905.2:g.160924G>C , LRG_292:g.160924G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5266G>C	ENSP00000417241.2:p.Asp1756His
ENST00000470026.6:c.5269G>C	ENSP00000419274.2:p.Asp1757His
ENST00000473961.6:c.5143G>C	ENSP00000420201.2:p.Asp1715His
ENST00000476777.6:c.5263G>C	ENSP00000417554.2:p.Asp1755His
ENST00000477152.6:c.5191G>C	ENSP00000419988.2:p.Asp1731His
ENST00000478531.6:c.1957G>C	ENSP00000420412.2:p.Asp653His
ENST00000489037.2:c.5191G>C	ENSP00000420781.2:p.Asp1731His
ENST00000493919.6:c.1819G>C	ENSP00000418819.2:p.Asp607His
ENST00000494123.6:c.5269G>C	ENSP00000419103.2:p.Asp1757His
ENST00000497488.2:c.4381G>C	ENSP00000418986.2:p.Asp1461His
ENST00000618469.2:c.5269G>C	ENSP00000478114.2:p.Asp1757His
ENST00000634433.2:c.5146G>C	ENSP00000489431.2:p.Asp1716His
ENST00000644379.2:c.5335G>C	ENSP00000496570.2:p.Asp1779His
ENST00000644555.2:c.1819G>C	ENSP00000494614.2:p.Asp607His
ENST00000652672.2:c.5128G>C	ENSP00000498906.2:p.Asp1710His
ENST00000484087.6:c.1831G>C	ENSP00000419481.2:p.Asp611His
ENST00000357654.9:c.5269G>C MANE Select	ENSP00000350283.3:p.Asp1757His
ENST00000471181.7:c.5332G>C	ENSP00000418960.2:p.Asp1778His
ENST00000644379.1:c.1656G>C
ENST00000352993.7:c.1843G>C	ENSP00000312236.5:p.Asp615His
ENST00000357654.7:c.5269G>C	ENSP00000350283.3:p.Asp1757His
ENST00000461221.5:c.*5052G>C	ENSP00000418548.1:n.*5052G>C
ENST00000468300.5:c.1957G>C	ENSP00000417148.1:p.Asp653His
ENST00000471181.6:c.5332G>C	ENSP00000418960.2:p.Asp1778His
ENST00000491747.6:c.1957G>C	ENSP00000420705.2:p.Asp653His
ENST00000493795.5:c.5128G>C	ENSP00000418775.1:p.Asp1710His
ENST00000586385.5:c.199G>C	ENSP00000465818.1:p.Asp67His
ENST00000591534.5:c.742G>C	ENSP00000467329.1:p.Asp248His
ENST00000591849.5:c.-98-6870G>C	ENSP00000465347.1:n.-98-6870G>C
NM_007294.3:c.5269G>C , LRG_292t1:c.5269G>C	NP_009225.1:p.Asp1757His
NM_007297.3:c.5128G>C	NP_009228.2:p.Asp1710His
NM_007298.3:c.1957G>C	NP_009229.2:p.Asp653His
NM_007299.3:c.1957G>C	NP_009230.2:p.Asp653His
NM_007300.3:c.5332G>C	NP_009231.2:p.Asp1778His
NR_027676.1:n.5405G>C
NM_007294.4:c.5269G>C MANE Select	NP_009225.1:p.Asp1757His
NM_007297.4:c.5128G>C	NP_009228.2:p.Asp1710His
NM_007299.4:c.1957G>C	NP_009230.2:p.Asp653His
NM_007300.4:c.5332G>C	NP_009231.2:p.Asp1778His
NR_027676.2:n.5446G>C