Linked Data
ClinVar Variation Id:
523689
dbSNP Id:
rs374519494
ExAC:
17:41231356 A / G
gnomAD v2:
17-41231356-A-G
gnomAD v3:
17-43079339-A-G
gnomAD v4:
17-43079339-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43079339A>G , CM000679.2:g.43079339A>G | GRCh38 |
| NC_000017.10:g.41231356A>G , CM000679.1:g.41231356A>G | GRCh37 |
| NC_000017.9:g.38484882A>G | NCBI36 |
| NG_005905.2:g.138645T>C , LRG_292:g.138645T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4358-2728T>C (BRCA1) | ENSP00000417241.2:n.4358-2728T>C | |
| ENST00000470026.6:c.4358-2725T>C (BRCA1) | ENSP00000419274.2:n.4358-2725T>C | |
| ENST00000473961.6:c.4232-2725T>C (BRCA1) | ENSP00000420201.2:n.4232-2725T>C | |
| ENST00000476777.6:c.4352-2725T>C (BRCA1) | ENSP00000417554.2:n.4352-2725T>C | |
| ENST00000477152.6:c.4280-2725T>C (BRCA1) | ENSP00000419988.2:n.4280-2725T>C | |
| ENST00000478531.6:c.1046-2725T>C (BRCA1) | ENSP00000420412.2:n.1046-2725T>C | |
| ENST00000489037.2:c.4280-2725T>C (BRCA1) | ENSP00000420781.2:n.4280-2725T>C | |
| ENST00000493919.6:c.908-2725T>C (BRCA1) | ENSP00000418819.2:n.908-2725T>C | |
| ENST00000494123.6:c.4358-2725T>C (BRCA1) | ENSP00000419103.2:n.4358-2725T>C | |
| ENST00000497488.2:c.3470-2725T>C (BRCA1) | ENSP00000418986.2:n.3470-2725T>C | |
| ENST00000618469.2:c.4358-2725T>C (BRCA1) | ENSP00000478114.2:n.4358-2725T>C | |
| ENST00000634433.2:c.4235-2725T>C (BRCA1) | ENSP00000489431.2:n.4235-2725T>C | |
| ENST00000644379.2:c.4418T>C (BRCA1) | ENSP00000496570.2:p.Ile1473Thr | |
| ENST00000644555.2:c.908-2725T>C (BRCA1) | ENSP00000494614.2:n.908-2725T>C | |
| ENST00000652672.2:c.4217-2725T>C (BRCA1) | ENSP00000498906.2:n.4217-2725T>C | |
| ENST00000484087.6:c.923-2728T>C (BRCA1) | ENSP00000419481.2:n.923-2728T>C | |
| ENST00000700182.1:c.968-2728T>C (BRCA1) | ENSP00000514849.1:n.968-2728T>C | |
| ENST00000357654.9:c.4358-2725T>C (BRCA1) MANE Select | ENSP00000350283.3:n.4358-2725T>C | |
| ENST00000471181.7:c.4418T>C (BRCA1) | ENSP00000418960.2:p.Ile1473Thr | |
| ENST00000644379.1:c.739T>C (BRCA1) | ||
| ENST00000352993.7:c.932-2725T>C (BRCA1) | ENSP00000312236.5:n.932-2725T>C | |
| ENST00000357654.7:c.4358-2725T>C (BRCA1) | ENSP00000350283.3:n.4358-2725T>C | |
| ENST00000461221.5:c.*4141-2725T>C (BRCA1) | ENSP00000418548.1:n.*4141-2725T>C | |
| ENST00000461574.1:c.652-2728T>C (BRCA1) | ||
| ENST00000468300.5:c.1049-2728T>C (BRCA1) | ENSP00000417148.1:n.1049-2728T>C | |
| ENST00000471181.6:c.4418T>C (BRCA1) | ENSP00000418960.2:p.Ile1473Thr | |
| ENST00000478531.5:c.1046-2725T>C (BRCA1) | ENSP00000420412.1:n.1046-2725T>C | |
| ENST00000484087.5:c.671-2725T>C (BRCA1) | ENSP00000419481.1:n.671-2725T>C | |
| ENST00000487825.5:c.674-2725T>C (BRCA1) | ENSP00000418212.1:n.674-2725T>C | |
| ENST00000491747.6:c.1049-2728T>C (BRCA1) | ENSP00000420705.2:n.1049-2728T>C | |
| ENST00000493795.5:c.4217-2725T>C (BRCA1) | ENSP00000418775.1:n.4217-2725T>C | |
| ENST00000493919.5:c.908-2725T>C (BRCA1) | ENSP00000418819.1:n.908-2725T>C | |
| ENST00000497954.1:n.38A>G (RPL21P4) | ||
| ENST00000586385.5:c.5-15388T>C (BRCA1) | ENSP00000465818.1:n.5-15388T>C | |
| ENST00000591534.5:c.-43-4818T>C (BRCA1) | ENSP00000467329.1:n.-43-4818T>C | |
| ENST00000591849.5:c.-98-29149T>C (BRCA1) | ENSP00000465347.1:n.-98-29149T>C | |
| ENST00000621897.1:n.252-2728T>C (BRCA1) | ||
| NM_007294.3:c.4358-2725T>C , LRG_292t1:c.4358-2725T>C (BRCA1) | NP_009225.1:n.4358-2725T>C | |
| NM_007297.3:c.4217-2725T>C (BRCA1) | NP_009228.2:n.4217-2725T>C | |
| NM_007298.3:c.1049-2728T>C (BRCA1) | NP_009229.2:n.1049-2728T>C | |
| NM_007299.3:c.1049-2728T>C (BRCA1) | NP_009230.2:n.1049-2728T>C | |
| NM_007300.3:c.4418T>C (BRCA1) | NP_009231.2:p.Ile1473Thr | |
| NR_027676.1:n.4494-2725T>C (BRCA1) | ||
| NM_007294.4:c.4358-2725T>C (BRCA1) MANE Select | NP_009225.1:n.4358-2725T>C | |
| NM_007297.4:c.4217-2725T>C (BRCA1) | NP_009228.2:n.4217-2725T>C | |
| NM_007299.4:c.1049-2728T>C (BRCA1) | NP_009230.2:n.1049-2728T>C | |
| NM_007300.4:c.4418T>C (BRCA1) | NP_009231.2:p.Ile1473Thr | |
| NR_027676.2:n.4535-2725T>C (BRCA1) |