gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001922 (AFR)
Genomes Max Group AF
0.00001922 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65008822C>G , CM000676.2:g.65008822C>G | GRCh38 |
| NC_000014.8:g.65475540C>G , CM000676.1:g.65475540C>G | GRCh37 |
| NC_000014.7:g.64545293C>G | NCBI36 |
| NG_029830.1:g.98688G>C , LRG_530:g.98688G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552941.6:c.241-3495C>G (CHURC1-FNTB) | ENSP00000449668.2:n.241-3495C>G | |
| ENST00000246166.3:c.210-3495C>G (FNTB) MANE Select | ENSP00000246166.2:n.210-3495C>G | |
| ENST00000246166.2:c.210-3495C>G (FNTB) | ENSP00000246166.2:n.210-3495C>G | |
| ENST00000341653.6:c.172-2538G>C (MAX) | ENSP00000342482.2:n.172-2538G>C | |
| ENST00000549987.1:c.312-3495C>G (CHURC1-FNTB) | ENSP00000447121.2:n.312-3495C>G | |
| ENST00000551823.1:c.386-3495C>G (CHURC1-FNTB) | ENSP00000449709.1:n.386-3495C>G | |
| ENST00000552941.5:c.252-3495C>G (CHURC1-FNTB) | ||
| ENST00000553743.5:c.156+4509C>G (CHURC1-FNTB) | ENSP00000450692.1:n.156+4509C>G | |
| ENST00000555372.5:n.269-3495C>G (FNTB) | ||
| ENST00000555742.5:n.414-3495C>G (FNTB) | ||
| NM_001202558.1:c.72-3495C>G (CHURC1-FNTB) | NP_001189487.1:n.72-3495C>G | |
| NM_001202559.1:c.393-3495C>G (CHURC1-FNTB) | NP_001189488.1:n.393-3495C>G | |
| NM_001271069.1:c.145-2538G>C (MAX) | NP_001257998.1:n.145-2538G>C | |
| NM_002028.3:c.210-3495C>G (FNTB) | NP_002019.1:n.210-3495C>G | |
| NM_197957.3:c.172-2538G>C (MAX) | NP_932061.1:n.172-2538G>C | |
| NM_002028.4:c.210-3495C>G (FNTB) MANE Select | NP_002019.1:n.210-3495C>G | |
| NM_001202558.2:c.72-3495C>G (CHURC1-FNTB) | NP_001189487.1:n.72-3495C>G | |
| NM_001271069.2:c.145-2538G>C (MAX) | NP_001257998.1:n.145-2538G>C | |
| NM_197957.4:c.172-2538G>C (MAX) | NP_932061.1:n.172-2538G>C |