Canonical Allele Identifier: CA348708

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 219464
• ClinVar RCV Id: RCV000204481 ; RCV000222081 ; RCV000487539
• dbSNP Id: rs864622104
• gnomAD v4: 17-43057104-T-C
• MyVariant Identifiers: chr17:g.41209121T>C (hg19) ; chr17:g.43057104T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057104T>C , CM000679.2:g.43057104T>C	GRCh38
NC_000017.10:g.41209121T>C , CM000679.1:g.41209121T>C	GRCh37
NC_000017.9:g.38462647T>C	NCBI36
NG_005905.2:g.160880A>G , LRG_292:g.160880A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5222A>G	ENSP00000417241.2:p.Asn1741Ser
ENST00000470026.6:c.5225A>G	ENSP00000419274.2:p.Asn1742Ser
ENST00000473961.6:c.5099A>G	ENSP00000420201.2:p.Asn1700Ser
ENST00000476777.6:c.5219A>G	ENSP00000417554.2:p.Asn1740Ser
ENST00000477152.6:c.5147A>G	ENSP00000419988.2:p.Asn1716Ser
ENST00000478531.6:c.1913A>G	ENSP00000420412.2:p.Asn638Ser
ENST00000489037.2:c.5147A>G	ENSP00000420781.2:p.Asn1716Ser
ENST00000493919.6:c.1775A>G	ENSP00000418819.2:p.Asn592Ser
ENST00000494123.6:c.5225A>G	ENSP00000419103.2:p.Asn1742Ser
ENST00000497488.2:c.4337A>G	ENSP00000418986.2:p.Asn1446Ser
ENST00000618469.2:c.5225A>G	ENSP00000478114.2:p.Asn1742Ser
ENST00000634433.2:c.5102A>G	ENSP00000489431.2:p.Asn1701Ser
ENST00000644379.2:c.5291A>G	ENSP00000496570.2:p.Asn1764Ser
ENST00000644555.2:c.1775A>G	ENSP00000494614.2:p.Asn592Ser
ENST00000652672.2:c.5084A>G	ENSP00000498906.2:p.Asn1695Ser
ENST00000484087.6:c.1787A>G	ENSP00000419481.2:p.Asn596Ser
ENST00000357654.9:c.5225A>G MANE Select	ENSP00000350283.3:p.Asn1742Ser
ENST00000471181.7:c.5288A>G	ENSP00000418960.2:p.Asn1763Ser
ENST00000644379.1:c.1612A>G
ENST00000352993.7:c.1799A>G	ENSP00000312236.5:p.Asn600Ser
ENST00000357654.7:c.5225A>G	ENSP00000350283.3:p.Asn1742Ser
ENST00000461221.5:c.*5008A>G	ENSP00000418548.1:n.*5008A>G
ENST00000468300.5:c.1913A>G	ENSP00000417148.1:p.Asn638Ser
ENST00000471181.6:c.5288A>G	ENSP00000418960.2:p.Asn1763Ser
ENST00000491747.6:c.1913A>G	ENSP00000420705.2:p.Asn638Ser
ENST00000493795.5:c.5084A>G	ENSP00000418775.1:p.Asn1695Ser
ENST00000586385.5:c.155A>G	ENSP00000465818.1:p.Asn52Ser
ENST00000591534.5:c.698A>G	ENSP00000467329.1:p.Asn233Ser
ENST00000591849.5:c.-98-6914A>G	ENSP00000465347.1:n.-98-6914A>G
NM_007294.3:c.5225A>G , LRG_292t1:c.5225A>G	NP_009225.1:p.Asn1742Ser
NM_007297.3:c.5084A>G	NP_009228.2:p.Asn1695Ser
NM_007298.3:c.1913A>G	NP_009229.2:p.Asn638Ser
NM_007299.3:c.1913A>G	NP_009230.2:p.Asn638Ser
NM_007300.3:c.5288A>G	NP_009231.2:p.Asn1763Ser
NR_027676.1:n.5361A>G
NM_007294.4:c.5225A>G MANE Select	NP_009225.1:p.Asn1742Ser
NM_007297.4:c.5084A>G	NP_009228.2:p.Asn1695Ser
NM_007299.4:c.1913A>G	NP_009230.2:p.Asn638Ser
NM_007300.4:c.5288A>G	NP_009231.2:p.Asn1763Ser
NR_027676.2:n.5402A>G