Canonical Allele Identifier: CA003129

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125740
• ClinVar RCV Id: RCV000112445 ; RCV000196687 ; RCV000429981 ; RCV000773180 ; RCV001354485 ; RCV001711198
• dbSNP Id: rs80358170
• gnomAD v2: 17-41219723-A-G
• gnomAD v3: 17-43067706-A-G
• gnomAD v4: 17-43067706-A-G
• MyVariant Identifiers: chr17:g.41219723A>G (hg19) ; chr17:g.43067706A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067706A>G , CM000679.2:g.43067706A>G	GRCh38
NC_000017.10:g.41219723A>G , CM000679.1:g.41219723A>G	GRCh37
NC_000017.9:g.38473249A>G	NCBI36
NG_005905.2:g.150278T>C , LRG_292:g.150278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-11T>C	ENSP00000417241.2:n.4984-11T>C
ENST00000470026.6:c.4987-11T>C	ENSP00000419274.2:n.4987-11T>C
ENST00000473961.6:c.4861-11T>C	ENSP00000420201.2:n.4861-11T>C
ENST00000476777.6:c.4981-11T>C	ENSP00000417554.2:n.4981-11T>C
ENST00000477152.6:c.4909-11T>C	ENSP00000419988.2:n.4909-11T>C
ENST00000478531.6:c.1675-11T>C	ENSP00000420412.2:n.1675-11T>C
ENST00000489037.2:c.4909-11T>C	ENSP00000420781.2:n.4909-11T>C
ENST00000493919.6:c.1537-11T>C	ENSP00000418819.2:n.1537-11T>C
ENST00000494123.6:c.4987-11T>C	ENSP00000419103.2:n.4987-11T>C
ENST00000497488.2:c.4099-11T>C	ENSP00000418986.2:n.4099-11T>C
ENST00000618469.2:c.4987-11T>C	ENSP00000478114.2:n.4987-11T>C
ENST00000634433.2:c.4864-11T>C	ENSP00000489431.2:n.4864-11T>C
ENST00000644379.2:c.5053-11T>C	ENSP00000496570.2:n.5053-11T>C
ENST00000644555.2:c.1537-11T>C	ENSP00000494614.2:n.1537-11T>C
ENST00000652672.2:c.4846-11T>C	ENSP00000498906.2:n.4846-11T>C
ENST00000484087.6:c.1549-11T>C	ENSP00000419481.2:n.1549-11T>C
ENST00000357654.9:c.4987-11T>C MANE Select	ENSP00000350283.3:n.4987-11T>C
ENST00000471181.7:c.5050-11T>C	ENSP00000418960.2:n.5050-11T>C
ENST00000644379.1:c.1374-11T>C
ENST00000352993.7:c.1561-11T>C	ENSP00000312236.5:n.1561-11T>C
ENST00000357654.7:c.4987-11T>C	ENSP00000350283.3:n.4987-11T>C
ENST00000461221.5:c.*4770-11T>C	ENSP00000418548.1:n.*4770-11T>C
ENST00000468300.5:c.1675-11T>C	ENSP00000417148.1:n.1675-11T>C
ENST00000471181.6:c.5050-11T>C	ENSP00000418960.2:n.5050-11T>C
ENST00000472490.1:n.140-11T>C
ENST00000478531.5:c.1675-11T>C	ENSP00000420412.1:n.1675-11T>C
ENST00000484087.5:c.1300-11T>C	ENSP00000419481.1:n.1300-11T>C
ENST00000491747.6:c.1675-11T>C	ENSP00000420705.2:n.1675-11T>C
ENST00000493795.5:c.4846-11T>C	ENSP00000418775.1:n.4846-11T>C
ENST00000493919.5:c.1537-11T>C	ENSP00000418819.1:n.1537-11T>C
ENST00000586385.5:c.5-3755T>C	ENSP00000465818.1:n.5-3755T>C
ENST00000591534.5:c.460-11T>C	ENSP00000467329.1:n.460-11T>C
ENST00000591849.5:c.-98-17516T>C	ENSP00000465347.1:n.-98-17516T>C
NM_007294.3:c.4987-11T>C , LRG_292t1:c.4987-11T>C	NP_009225.1:n.4987-11T>C
NM_007297.3:c.4846-11T>C	NP_009228.2:n.4846-11T>C
NM_007298.3:c.1675-11T>C	NP_009229.2:n.1675-11T>C
NM_007299.3:c.1675-11T>C	NP_009230.2:n.1675-11T>C
NM_007300.3:c.5050-11T>C	NP_009231.2:n.5050-11T>C
NR_027676.1:n.5123-11T>C
NM_007294.4:c.4987-11T>C MANE Select	NP_009225.1:n.4987-11T>C
NM_007297.4:c.4846-11T>C	NP_009228.2:n.4846-11T>C
NM_007299.4:c.1675-11T>C	NP_009230.2:n.1675-11T>C
NM_007300.4:c.5050-11T>C	NP_009231.2:n.5050-11T>C
NR_027676.2:n.5164-11T>C