Canonical Allele Identifier: CA658798845

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 508746
• ClinVar RCV Id: RCV000609609 ; RCV000772448 ; RCV001440497 ; RCV003150300
• dbSNP Id: rs397507234
• gnomAD v4: 17-43074529-G-T
• MyVariant Identifiers: chr17:g.41226546G>T (hg19) ; chr17:g.43074529G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43074529G>T , CM000679.2:g.43074529G>T	GRCh38
NC_000017.10:g.41226546G>T , CM000679.1:g.41226546G>T	GRCh37
NC_000017.9:g.38480072G>T	NCBI36
NG_005905.2:g.143455C>A , LRG_292:g.143455C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4482-8C>A	ENSP00000417241.2:n.4482-8C>A
ENST00000470026.6:c.4485-8C>A	ENSP00000419274.2:n.4485-8C>A
ENST00000473961.6:c.4359-8C>A	ENSP00000420201.2:n.4359-8C>A
ENST00000476777.6:c.4479-8C>A	ENSP00000417554.2:n.4479-8C>A
ENST00000477152.6:c.4407-8C>A	ENSP00000419988.2:n.4407-8C>A
ENST00000478531.6:c.1173-8C>A	ENSP00000420412.2:n.1173-8C>A
ENST00000489037.2:c.4407-8C>A	ENSP00000420781.2:n.4407-8C>A
ENST00000493919.6:c.1035-8C>A	ENSP00000418819.2:n.1035-8C>A
ENST00000494123.6:c.4485-8C>A	ENSP00000419103.2:n.4485-8C>A
ENST00000497488.2:c.3597-8C>A	ENSP00000418986.2:n.3597-8C>A
ENST00000618469.2:c.4485-8C>A	ENSP00000478114.2:n.4485-8C>A
ENST00000634433.2:c.4362-8C>A	ENSP00000489431.2:n.4362-8C>A
ENST00000644379.2:c.4551-8C>A	ENSP00000496570.2:n.4551-8C>A
ENST00000644555.2:c.1035-8C>A	ENSP00000494614.2:n.1035-8C>A
ENST00000652672.2:c.4344-8C>A	ENSP00000498906.2:n.4344-8C>A
ENST00000484087.6:c.1047-8C>A	ENSP00000419481.2:n.1047-8C>A
ENST00000700182.1:c.1092-8C>A	ENSP00000514849.1:n.1092-8C>A
ENST00000357654.9:c.4485-8C>A MANE Select	ENSP00000350283.3:n.4485-8C>A
ENST00000471181.7:c.4548-8C>A	ENSP00000418960.2:n.4548-8C>A
ENST00000644379.1:c.872-8C>A
ENST00000352993.7:c.1059-8C>A	ENSP00000312236.5:n.1059-8C>A
ENST00000357654.7:c.4485-8C>A	ENSP00000350283.3:n.4485-8C>A
ENST00000461221.5:c.*4268-8C>A	ENSP00000418548.1:n.*4268-8C>A
ENST00000468300.5:c.1173-8C>A	ENSP00000417148.1:n.1173-8C>A
ENST00000471181.6:c.4548-8C>A	ENSP00000418960.2:n.4548-8C>A
ENST00000478531.5:c.1173-8C>A	ENSP00000420412.1:n.1173-8C>A
ENST00000484087.5:c.798-8C>A	ENSP00000419481.1:n.798-8C>A
ENST00000491747.6:c.1173-8C>A	ENSP00000420705.2:n.1173-8C>A
ENST00000493795.5:c.4344-8C>A	ENSP00000418775.1:n.4344-8C>A
ENST00000493919.5:c.1035-8C>A	ENSP00000418819.1:n.1035-8C>A
ENST00000586385.5:c.5-10578C>A	ENSP00000465818.1:n.5-10578C>A
ENST00000591534.5:c.-43-8C>A	ENSP00000467329.1:n.-43-8C>A
ENST00000591849.5:c.-98-24339C>A	ENSP00000465347.1:n.-98-24339C>A
NM_007294.3:c.4485-8C>A , LRG_292t1:c.4485-8C>A	NP_009225.1:n.4485-8C>A
NM_007297.3:c.4344-8C>A	NP_009228.2:n.4344-8C>A
NM_007298.3:c.1173-8C>A	NP_009229.2:n.1173-8C>A
NM_007299.3:c.1173-8C>A	NP_009230.2:n.1173-8C>A
NM_007300.3:c.4548-8C>A	NP_009231.2:n.4548-8C>A
NR_027676.1:n.4621-8C>A
NM_007294.4:c.4485-8C>A MANE Select	NP_009225.1:n.4485-8C>A
NM_007297.4:c.4344-8C>A	NP_009228.2:n.4344-8C>A
NM_007299.4:c.1173-8C>A	NP_009230.2:n.1173-8C>A
NM_007300.4:c.4548-8C>A	NP_009231.2:n.4548-8C>A
NR_027676.2:n.4662-8C>A