gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65006243A>T , CM000676.2:g.65006243A>T | GRCh38 |
| NC_000014.8:g.65472961A>T , CM000676.1:g.65472961A>T | GRCh37 |
| NC_000014.7:g.64542714A>T | NCBI36 |
| NG_029830.1:g.101267T>A , LRG_530:g.101267T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552941.6:c.240+1930A>T (CHURC1-FNTB) | ENSP00000449668.2:n.240+1930A>T | |
| ENST00000246166.3:c.209+1930A>T (FNTB) MANE Select | ENSP00000246166.2:n.209+1930A>T | |
| ENST00000246166.2:c.209+1930A>T (FNTB) | ENSP00000246166.2:n.209+1930A>T | |
| ENST00000341653.6:c.213T>A (MAX) | ENSP00000342482.2:p.Tyr71Ter | |
| ENST00000549987.1:c.311+1930A>T (CHURC1-FNTB) | ENSP00000447121.2:n.311+1930A>T | |
| ENST00000551823.1:c.385+1930A>T (CHURC1-FNTB) | ENSP00000449709.1:n.385+1930A>T | |
| ENST00000552941.5:c.251+1930A>T (CHURC1-FNTB) | ||
| ENST00000553743.5:c.156+1930A>T (CHURC1-FNTB) | ENSP00000450692.1:n.156+1930A>T | |
| ENST00000555372.5:n.268+1930A>T (FNTB) | ||
| ENST00000555742.5:n.413+1930A>T (FNTB) | ||
| NM_001202558.1:c.71+1930A>T (CHURC1-FNTB) | NP_001189487.1:n.71+1930A>T | |
| NM_001202559.1:c.392+1930A>T (CHURC1-FNTB) | NP_001189488.1:n.392+1930A>T | |
| NM_001271069.1:c.186T>A (MAX) | NP_001257998.1:p.Tyr62Ter | |
| NM_002028.3:c.209+1930A>T (FNTB) | NP_002019.1:n.209+1930A>T | |
| NM_197957.3:c.213T>A (MAX) | NP_932061.1:p.Tyr71Ter | |
| NM_002028.4:c.209+1930A>T (FNTB) MANE Select | NP_002019.1:n.209+1930A>T | |
| NM_001202558.2:c.71+1930A>T (CHURC1-FNTB) | NP_001189487.1:n.71+1930A>T | |
| NM_001271069.2:c.186T>A (MAX) | NP_001257998.1:p.Tyr62Ter | |
| NM_197957.4:c.213T>A (MAX) | NP_932061.1:p.Tyr71Ter |