Canonical Allele Identifier: CA056114

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 220023
• ClinVar RCV Id: RCV001753611
• dbSNP Id: rs748876625
• ExAC: 17:41256139 C / G
• gnomAD v2: 17-41256139-C-G
• gnomAD v3: 17-43104122-C-G
• gnomAD v4: 17-43104122-C-G
• MyVariant Identifiers: chr17:g.41256139C>G (hg19) ; chr17:g.43104122C>G (hg38)
• PubMed: PMID:19370767 ; PMID:23034506 ; PMID:23231788 ; PMID:23867111

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43104122C>G , CM000679.2:g.43104122C>G	GRCh38
NC_000017.10:g.41256139C>G , CM000679.1:g.41256139C>G	GRCh37
NC_000017.9:g.38509665C>G	NCBI36
NG_005905.2:g.113862G>C , LRG_292:g.113862G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.505G>C
ENST00000461574.2:c.441G>C	ENSP00000417241.2:p.Leu147Phe
ENST00000470026.6:c.441G>C	ENSP00000419274.2:p.Leu147Phe
ENST00000473961.6:c.441G>C	ENSP00000420201.2:p.Leu147Phe
ENST00000476777.6:c.441G>C	ENSP00000417554.2:p.Leu147Phe
ENST00000477152.6:c.363G>C	ENSP00000419988.2:p.Leu121Phe
ENST00000478531.6:c.441G>C	ENSP00000420412.2:p.Leu147Phe
ENST00000489037.2:c.363G>C	ENSP00000420781.2:p.Leu121Phe
ENST00000493919.6:c.300G>C	ENSP00000418819.2:p.Leu100Phe
ENST00000494123.6:c.441G>C	ENSP00000419103.2:p.Leu147Phe
ENST00000497488.2:c.-218-9262G>C	ENSP00000418986.2:n.-218-9262G>C
ENST00000618469.2:c.441G>C	ENSP00000478114.2:p.Leu147Phe
ENST00000634433.2:c.441G>C	ENSP00000489431.2:p.Leu147Phe
ENST00000644379.2:c.441G>C	ENSP00000496570.2:p.Leu147Phe
ENST00000644555.2:c.300G>C	ENSP00000494614.2:p.Leu100Phe
ENST00000652672.2:c.300G>C	ENSP00000498906.2:p.Leu100Phe
ENST00000484087.6:c.441G>C	ENSP00000419481.2:p.Leu147Phe
ENST00000700182.1:c.363G>C	ENSP00000514849.1:p.Leu121Phe
ENST00000700183.1:c.*355G>C	ENSP00000514850.1:n.*355G>C
ENST00000700184.1:n.684G>C
ENST00000357654.9:c.441G>C MANE Select	ENSP00000350283.3:p.Leu147Phe
ENST00000471181.7:c.441G>C	ENSP00000418960.2:p.Leu147Phe
ENST00000642945.1:c.*315G>C	ENSP00000495897.1:n.*315G>C
ENST00000652672.1:c.300G>C	ENSP00000498906.1:p.Leu100Phe
ENST00000352993.7:c.441G>C	ENSP00000312236.5:p.Leu147Phe
ENST00000354071.7:c.441G>C	ENSP00000326002.7:p.Leu147Phe
ENST00000357654.7:c.441G>C	ENSP00000350283.3:p.Leu147Phe
ENST00000461221.5:c.*227G>C	ENSP00000418548.1:n.*227G>C
ENST00000461798.5:c.*227G>C	ENSP00000417988.1:n.*227G>C
ENST00000468300.5:c.441G>C	ENSP00000417148.1:p.Leu147Phe
ENST00000470026.5:c.441G>C	ENSP00000419274.1:p.Leu147Phe
ENST00000471181.6:c.441G>C	ENSP00000418960.2:p.Leu147Phe
ENST00000473961.5:c.164G>C
ENST00000476777.5:c.441G>C	ENSP00000417554.1:p.Leu147Phe
ENST00000477152.5:c.363G>C	ENSP00000419988.1:p.Leu121Phe
ENST00000478531.5:c.441G>C	ENSP00000420412.1:p.Leu147Phe
ENST00000484087.5:c.189G>C	ENSP00000419481.1:p.Leu63Phe
ENST00000487825.5:c.189G>C	ENSP00000418212.1:p.Leu63Phe
ENST00000491747.6:c.441G>C	ENSP00000420705.2:p.Leu147Phe
ENST00000492859.5:c.*377G>C	ENSP00000420253.1:n.*377G>C
ENST00000493795.5:c.300G>C	ENSP00000418775.1:p.Leu100Phe
ENST00000493919.5:c.300G>C	ENSP00000418819.1:p.Leu100Phe
ENST00000494123.5:c.441G>C	ENSP00000419103.1:p.Leu147Phe
ENST00000497488.1:c.-218-9262G>C	ENSP00000418986.1:n.-218-9262G>C
ENST00000586385.5:c.4+21060G>C	ENSP00000465818.1:n.4+21060G>C
ENST00000591534.5:c.-44+21149G>C	ENSP00000467329.1:n.-44+21149G>C
ENST00000591849.5:c.-99+21149G>C	ENSP00000465347.1:n.-99+21149G>C
ENST00000634433.1:c.441G>C	ENSP00000489431.1:p.Leu147Phe
NM_007294.3:c.441G>C , LRG_292t1:c.441G>C	NP_009225.1:p.Leu147Phe
NM_007297.3:c.300G>C	NP_009228.2:p.Leu100Phe
NM_007298.3:c.441G>C	NP_009229.2:p.Leu147Phe
NM_007299.3:c.441G>C	NP_009230.2:p.Leu147Phe
NM_007300.3:c.441G>C	NP_009231.2:p.Leu147Phe
NR_027676.1:n.580G>C
NM_007294.4:c.441G>C MANE Select	NP_009225.1:p.Leu147Phe
NM_007297.4:c.300G>C	NP_009228.2:p.Leu100Phe
NM_007299.4:c.441G>C	NP_009230.2:p.Leu147Phe
NM_007300.4:c.441G>C	NP_009231.2:p.Leu147Phe
NR_027676.2:n.621G>C