Canonical Allele Identifier: CA2638062709

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43071354-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071354C>A , CM000679.2:g.43071354C>A	GRCh38
NC_000017.10:g.41223371C>A , CM000679.1:g.41223371C>A	GRCh37
NC_000017.9:g.38476897C>A	NCBI36
NG_005905.2:g.146630G>T , LRG_292:g.146630G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4673-116G>T	ENSP00000417241.2:n.4673-116G>T
ENST00000470026.6:c.4676-116G>T	ENSP00000419274.2:n.4676-116G>T
ENST00000473961.6:c.4550-116G>T	ENSP00000420201.2:n.4550-116G>T
ENST00000476777.6:c.4670-116G>T	ENSP00000417554.2:n.4670-116G>T
ENST00000477152.6:c.4598-116G>T	ENSP00000419988.2:n.4598-116G>T
ENST00000478531.6:c.1364-116G>T	ENSP00000420412.2:n.1364-116G>T
ENST00000489037.2:c.4598-116G>T	ENSP00000420781.2:n.4598-116G>T
ENST00000493919.6:c.1226-116G>T	ENSP00000418819.2:n.1226-116G>T
ENST00000494123.6:c.4676-116G>T	ENSP00000419103.2:n.4676-116G>T
ENST00000497488.2:c.3788-116G>T	ENSP00000418986.2:n.3788-116G>T
ENST00000618469.2:c.4676-116G>T	ENSP00000478114.2:n.4676-116G>T
ENST00000634433.2:c.4553-116G>T	ENSP00000489431.2:n.4553-116G>T
ENST00000644379.2:c.4742-116G>T	ENSP00000496570.2:n.4742-116G>T
ENST00000644555.2:c.1226-116G>T	ENSP00000494614.2:n.1226-116G>T
ENST00000652672.2:c.4535-116G>T	ENSP00000498906.2:n.4535-116G>T
ENST00000484087.6:c.1238-116G>T	ENSP00000419481.2:n.1238-116G>T
ENST00000700182.1:c.1283-116G>T	ENSP00000514849.1:n.1283-116G>T
ENST00000357654.9:c.4676-116G>T MANE Select	ENSP00000350283.3:n.4676-116G>T
ENST00000471181.7:c.4739-116G>T	ENSP00000418960.2:n.4739-116G>T
ENST00000644379.1:c.1063-116G>T
ENST00000352993.7:c.1250-116G>T	ENSP00000312236.5:n.1250-116G>T
ENST00000357654.7:c.4676-116G>T	ENSP00000350283.3:n.4676-116G>T
ENST00000461221.5:c.*4459-116G>T	ENSP00000418548.1:n.*4459-116G>T
ENST00000468300.5:c.1364-116G>T	ENSP00000417148.1:n.1364-116G>T
ENST00000471181.6:c.4739-116G>T	ENSP00000418960.2:n.4739-116G>T
ENST00000478531.5:c.1364-116G>T	ENSP00000420412.1:n.1364-116G>T
ENST00000484087.5:c.989-116G>T	ENSP00000419481.1:n.989-116G>T
ENST00000491747.6:c.1364-116G>T	ENSP00000420705.2:n.1364-116G>T
ENST00000493795.5:c.4535-116G>T	ENSP00000418775.1:n.4535-116G>T
ENST00000493919.5:c.1226-116G>T	ENSP00000418819.1:n.1226-116G>T
ENST00000586385.5:c.5-7403G>T	ENSP00000465818.1:n.5-7403G>T
ENST00000591534.5:c.149-116G>T	ENSP00000467329.1:n.149-116G>T
ENST00000591849.5:c.-98-21164G>T	ENSP00000465347.1:n.-98-21164G>T
NM_007294.3:c.4676-116G>T , LRG_292t1:c.4676-116G>T	NP_009225.1:n.4676-116G>T
NM_007297.3:c.4535-116G>T	NP_009228.2:n.4535-116G>T
NM_007298.3:c.1364-116G>T	NP_009229.2:n.1364-116G>T
NM_007299.3:c.1364-116G>T	NP_009230.2:n.1364-116G>T
NM_007300.3:c.4739-116G>T	NP_009231.2:n.4739-116G>T
NR_027676.1:n.4812-116G>T
NM_007294.4:c.4676-116G>T MANE Select	NP_009225.1:n.4676-116G>T
NM_007297.4:c.4535-116G>T	NP_009228.2:n.4535-116G>T
NM_007299.4:c.1364-116G>T	NP_009230.2:n.1364-116G>T
NM_007300.4:c.4739-116G>T	NP_009231.2:n.4739-116G>T
NR_027676.2:n.4853-116G>T