gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68298336 (AFR)
Genomes Max Group AF
0.68298336 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65006478G>A , CM000676.2:g.65006478G>A | GRCh38 |
| NC_000014.8:g.65473196G>A , CM000676.1:g.65473196G>A | GRCh37 |
| NC_000014.7:g.64542949G>A | NCBI36 |
| NG_029830.1:g.101032C>T , LRG_530:g.101032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552941.6:c.240+2165G>A (CHURC1-FNTB) | ENSP00000449668.2:n.240+2165G>A | |
| ENST00000246166.3:c.209+2165G>A (FNTB) MANE Select | ENSP00000246166.2:n.209+2165G>A | |
| ENST00000246166.2:c.209+2165G>A (FNTB) | ENSP00000246166.2:n.209+2165G>A | |
| ENST00000341653.6:c.172-194C>T (MAX) | ENSP00000342482.2:n.172-194C>T | |
| ENST00000549987.1:c.311+2165G>A (CHURC1-FNTB) | ENSP00000447121.2:n.311+2165G>A | |
| ENST00000551823.1:c.385+2165G>A (CHURC1-FNTB) | ENSP00000449709.1:n.385+2165G>A | |
| ENST00000552941.5:c.251+2165G>A (CHURC1-FNTB) | ||
| ENST00000553743.5:c.156+2165G>A (CHURC1-FNTB) | ENSP00000450692.1:n.156+2165G>A | |
| ENST00000555372.5:n.268+2165G>A (FNTB) | ||
| ENST00000555742.5:n.413+2165G>A (FNTB) | ||
| NM_001202558.1:c.71+2165G>A (CHURC1-FNTB) | NP_001189487.1:n.71+2165G>A | |
| NM_001202559.1:c.392+2165G>A (CHURC1-FNTB) | NP_001189488.1:n.392+2165G>A | |
| NM_001271069.1:c.145-194C>T (MAX) | NP_001257998.1:n.145-194C>T | |
| NM_002028.3:c.209+2165G>A (FNTB) | NP_002019.1:n.209+2165G>A | |
| NM_197957.3:c.172-194C>T (MAX) | NP_932061.1:n.172-194C>T | |
| NM_002028.4:c.209+2165G>A (FNTB) MANE Select | NP_002019.1:n.209+2165G>A | |
| NM_001202558.2:c.71+2165G>A (CHURC1-FNTB) | NP_001189487.1:n.71+2165G>A | |
| NM_001271069.2:c.145-194C>T (MAX) | NP_001257998.1:n.145-194C>T | |
| NM_197957.4:c.172-194C>T (MAX) | NP_932061.1:n.172-194C>T |