Revel Score:
ENST00000295956 (MANE Select)
0.814
ENST00000490882
0.814
ENST00000358537
0.814
ENST00000429972
0.814
ENST00000348383
0.814
ENST00000493452
0.814
ENST00000419752
0.814
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016268 (SAS)
Genomes Max Group AF
0.00003251 (AFR)
Exomes Max Group AF
0.00017248 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58169706G>A , CM000665.2:g.58169706G>A | GRCh38 |
| NC_000003.11:g.58155433G>A , CM000665.1:g.58155433G>A | GRCh37 |
| NC_000003.10:g.58130473G>A | NCBI36 |
| NG_012801.1:g.166307G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419752.4:n.4203G>A (FLNB) | ||
| ENST00000682297.1:n.2886G>A (FLNB) | ||
| ENST00000682503.1:n.1734G>A (FLNB) | ||
| ENST00000682871.1:c.7414G>A (FLNB) | ENSP00000507805.1:p.Ala2472Thr | |
| ENST00000683114.1:n.2205G>A (FLNB) | ||
| ENST00000684439.1:n.3845G>A (FLNB) | ||
| ENST00000684506.1:c.*6087G>A (FLNB) | ENSP00000507728.1:n.*6087G>A | |
| ENST00000684607.1:c.*626G>A (FLNB) | ENSP00000508224.1:n.*626G>A | |
| ENST00000295956.9:c.7534G>A (FLNB) MANE Select | ENSP00000295956.5:p.Ala2512Thr | |
| ENST00000295956.8:c.7534G>A (FLNB) | ENSP00000295956.4:p.Ala2512Thr | |
| ENST00000358537.7:c.7462G>A (FLNB) | ENSP00000351339.3:p.Ala2488Thr | |
| ENST00000419752.3:c.214G>A (FLNB) | ENSP00000414532.3:p.Ala72Thr | |
| ENST00000429972.6:c.7501G>A (FLNB) | ENSP00000415599.2:p.Ala2501Thr | |
| ENST00000481470.5:n.4733G>A (FLNB) | ||
| ENST00000484981.1:n.441G>A (FLNB) | ||
| ENST00000490882.5:c.7627G>A (FLNB) | ENSP00000420213.1:p.Ala2543Thr | |
| ENST00000493452.5:c.6955G>A (FLNB) | ENSP00000418510.1:p.Ala2319Thr | |
| NM_001164317.1:c.7627G>A (FLNB) | NP_001157789.1:p.Ala2543Thr | |
| NM_001164318.1:c.7501G>A (FLNB) | NP_001157790.1:p.Ala2501Thr | |
| NM_001164319.1:c.7462G>A (FLNB) | NP_001157791.1:p.Ala2488Thr | |
| NM_001457.3:c.7534G>A (FLNB) | NP_001448.2:p.Ala2512Thr | |
| XM_005264977.1:c.7594G>A (FLNB) | XP_005265034.1:p.Ala2532Thr | |
| XM_005264978.1:c.7555G>A (FLNB) | XP_005265035.1:p.Ala2519Thr | |
| XR_940875.1:n.139+791C>T (FLNB-AS1) | ||
| NR_135534.1:n.139+791C>T (FLNB-AS1) | ||
| XM_005264978.2:c.7555G>A (FLNB) | XP_005265035.1:p.Ala2519Thr | |
| XR_001740065.1:n.7842G>A (FLNB) | ||
| NM_001164317.2:c.7627G>A (FLNB) | NP_001157789.1:p.Ala2543Thr | |
| NM_001164318.2:c.7501G>A (FLNB) | NP_001157790.1:p.Ala2501Thr | |
| NM_001164319.2:c.7462G>A (FLNB) | NP_001157791.1:p.Ala2488Thr | |
| NM_001457.4:c.7534G>A (FLNB) MANE Select | NP_001448.2:p.Ala2512Thr |