Canonical Allele Identifier: CA290823525

Gene: BRCA1

Linked Data

• dbSNP Id: rs1048230980
• gnomAD v3: 17-43057227-A-G
• gnomAD v4: 17-43057227-A-G
• MyVariant Identifiers: chr17:g.41209244A>G (hg19) ; chr17:g.43057227A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057227A>G , CM000679.2:g.43057227A>G	GRCh38
NC_000017.10:g.41209244A>G , CM000679.1:g.41209244A>G	GRCh37
NC_000017.9:g.38462770A>G	NCBI36
NG_005905.2:g.160757T>C , LRG_292:g.160757T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5191-92T>C	ENSP00000417241.2:n.5191-92T>C
ENST00000470026.6:c.5194-92T>C	ENSP00000419274.2:n.5194-92T>C
ENST00000473961.6:c.5068-92T>C	ENSP00000420201.2:n.5068-92T>C
ENST00000476777.6:c.5188-92T>C	ENSP00000417554.2:n.5188-92T>C
ENST00000477152.6:c.5116-92T>C	ENSP00000419988.2:n.5116-92T>C
ENST00000478531.6:c.1882-92T>C	ENSP00000420412.2:n.1882-92T>C
ENST00000489037.2:c.5116-92T>C	ENSP00000420781.2:n.5116-92T>C
ENST00000493919.6:c.1744-92T>C	ENSP00000418819.2:n.1744-92T>C
ENST00000494123.6:c.5194-92T>C	ENSP00000419103.2:n.5194-92T>C
ENST00000497488.2:c.4306-92T>C	ENSP00000418986.2:n.4306-92T>C
ENST00000618469.2:c.5194-92T>C	ENSP00000478114.2:n.5194-92T>C
ENST00000634433.2:c.5071-92T>C	ENSP00000489431.2:n.5071-92T>C
ENST00000644379.2:c.5260-92T>C	ENSP00000496570.2:n.5260-92T>C
ENST00000644555.2:c.1744-92T>C	ENSP00000494614.2:n.1744-92T>C
ENST00000652672.2:c.5053-92T>C	ENSP00000498906.2:n.5053-92T>C
ENST00000484087.6:c.1756-92T>C	ENSP00000419481.2:n.1756-92T>C
ENST00000357654.9:c.5194-92T>C MANE Select	ENSP00000350283.3:n.5194-92T>C
ENST00000471181.7:c.5257-92T>C	ENSP00000418960.2:n.5257-92T>C
ENST00000644379.1:c.1581-92T>C
ENST00000352993.7:c.1768-92T>C	ENSP00000312236.5:n.1768-92T>C
ENST00000357654.7:c.5194-92T>C	ENSP00000350283.3:n.5194-92T>C
ENST00000461221.5:c.*4977-92T>C	ENSP00000418548.1:n.*4977-92T>C
ENST00000468300.5:c.1882-92T>C	ENSP00000417148.1:n.1882-92T>C
ENST00000471181.6:c.5257-92T>C	ENSP00000418960.2:n.5257-92T>C
ENST00000491747.6:c.1882-92T>C	ENSP00000420705.2:n.1882-92T>C
ENST00000493795.5:c.5053-92T>C	ENSP00000418775.1:n.5053-92T>C
ENST00000586385.5:c.124-92T>C	ENSP00000465818.1:n.124-92T>C
ENST00000591534.5:c.667-92T>C	ENSP00000467329.1:n.667-92T>C
ENST00000591849.5:c.-98-7037T>C	ENSP00000465347.1:n.-98-7037T>C
NM_007294.3:c.5194-92T>C , LRG_292t1:c.5194-92T>C	NP_009225.1:n.5194-92T>C
NM_007297.3:c.5053-92T>C	NP_009228.2:n.5053-92T>C
NM_007298.3:c.1882-92T>C	NP_009229.2:n.1882-92T>C
NM_007299.3:c.1882-92T>C	NP_009230.2:n.1882-92T>C
NM_007300.3:c.5257-92T>C	NP_009231.2:n.5257-92T>C
NR_027676.1:n.5330-92T>C
NM_007294.4:c.5194-92T>C MANE Select	NP_009225.1:n.5194-92T>C
NM_007297.4:c.5053-92T>C	NP_009228.2:n.5053-92T>C
NM_007299.4:c.1882-92T>C	NP_009230.2:n.1882-92T>C
NM_007300.4:c.5257-92T>C	NP_009231.2:n.5257-92T>C
NR_027676.2:n.5371-92T>C