Canonical Allele Identifier: CA052607

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 479201
• ClinVar RCV Id: RCV000573632 ; RCV001054471
• dbSNP Id: rs28897691
• ExAC: 17:41226387 C / G
• gnomAD v2: 17-41226387-C-G
• gnomAD v4: 17-43074370-C-G
• MyVariant Identifiers: chr17:g.41226387C>G (hg19) ; chr17:g.43074370C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074370C>G , CM000679.2:g.43074370C>G	GRCh38
NC_000017.10:g.41226387C>G , CM000679.1:g.41226387C>G	GRCh37
NC_000017.9:g.38479913C>G	NCBI36
NG_005905.2:g.143614G>C , LRG_292:g.143614G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4633G>C	ENSP00000417241.2:p.Asp1545His
ENST00000470026.6:c.4636G>C	ENSP00000419274.2:p.Asp1546His
ENST00000473961.6:c.4510G>C	ENSP00000420201.2:p.Asp1504His
ENST00000476777.6:c.4630G>C	ENSP00000417554.2:p.Asp1544His
ENST00000477152.6:c.4558G>C	ENSP00000419988.2:p.Asp1520His
ENST00000478531.6:c.1324G>C	ENSP00000420412.2:p.Asp442His
ENST00000489037.2:c.4558G>C	ENSP00000420781.2:p.Asp1520His
ENST00000493919.6:c.1186G>C	ENSP00000418819.2:p.Asp396His
ENST00000494123.6:c.4636G>C	ENSP00000419103.2:p.Asp1546His
ENST00000497488.2:c.3748G>C	ENSP00000418986.2:p.Asp1250His
ENST00000618469.2:c.4636G>C	ENSP00000478114.2:p.Asp1546His
ENST00000634433.2:c.4513G>C	ENSP00000489431.2:p.Asp1505His
ENST00000644379.2:c.4702G>C	ENSP00000496570.2:p.Asp1568His
ENST00000644555.2:c.1186G>C	ENSP00000494614.2:p.Asp396His
ENST00000652672.2:c.4495G>C	ENSP00000498906.2:p.Asp1499His
ENST00000484087.6:c.1198G>C	ENSP00000419481.2:p.Asp400His
ENST00000700182.1:c.1243G>C	ENSP00000514849.1:p.Asp415His
ENST00000357654.9:c.4636G>C MANE Select	ENSP00000350283.3:p.Asp1546His
ENST00000471181.7:c.4699G>C	ENSP00000418960.2:p.Asp1567His
ENST00000644379.1:c.1023G>C
ENST00000352993.7:c.1210G>C	ENSP00000312236.5:p.Asp404His
ENST00000357654.7:c.4636G>C	ENSP00000350283.3:p.Asp1546His
ENST00000461221.5:c.*4419G>C	ENSP00000418548.1:n.*4419G>C
ENST00000468300.5:c.1324G>C	ENSP00000417148.1:p.Asp442His
ENST00000471181.6:c.4699G>C	ENSP00000418960.2:p.Asp1567His
ENST00000478531.5:c.1324G>C	ENSP00000420412.1:p.Asp442His
ENST00000484087.5:c.949G>C	ENSP00000419481.1:p.Asp317His
ENST00000491747.6:c.1324G>C	ENSP00000420705.2:p.Asp442His
ENST00000493795.5:c.4495G>C	ENSP00000418775.1:p.Asp1499His
ENST00000493919.5:c.1186G>C	ENSP00000418819.1:p.Asp396His
ENST00000586385.5:c.5-10419G>C	ENSP00000465818.1:n.5-10419G>C
ENST00000591534.5:c.109G>C	ENSP00000467329.1:p.Asp37His
ENST00000591849.5:c.-98-24180G>C	ENSP00000465347.1:n.-98-24180G>C
NM_007294.3:c.4636G>C , LRG_292t1:c.4636G>C	NP_009225.1:p.Asp1546His
NM_007297.3:c.4495G>C	NP_009228.2:p.Asp1499His
NM_007298.3:c.1324G>C	NP_009229.2:p.Asp442His
NM_007299.3:c.1324G>C	NP_009230.2:p.Asp442His
NM_007300.3:c.4699G>C	NP_009231.2:p.Asp1567His
NR_027676.1:n.4772G>C
NM_007294.4:c.4636G>C MANE Select	NP_009225.1:p.Asp1546His
NM_007297.4:c.4495G>C	NP_009228.2:p.Asp1499His
NM_007299.4:c.1324G>C	NP_009230.2:p.Asp442His
NM_007300.4:c.4699G>C	NP_009231.2:p.Asp1567His
NR_027676.2:n.4813G>C