gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65035521G>C , CM000676.2:g.65035521G>C | GRCh38 |
| NC_000014.8:g.65502239G>C , CM000676.1:g.65502239G>C | GRCh37 |
| NC_000014.7:g.64571992G>C | NCBI36 |
| NG_029830.1:g.71989C>G , LRG_530:g.71989C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000552941.6:c.*411+2825G>C (CHURC1-FNTB) | ENSP00000449668.2:n.*411+2825G>C | |
| ENST00000246166.3:c.692+2825G>C (FNTB) MANE Select | ENSP00000246166.2:n.692+2825G>C | |
| ENST00000246166.2:c.692+2825G>C (FNTB) | ENSP00000246166.2:n.692+2825G>C | |
| ENST00000341653.6:c.172-29237C>G (MAX) | ENSP00000342482.2:n.172-29237C>G | |
| ENST00000549987.1:c.794+2825G>C (CHURC1-FNTB) | ENSP00000447121.2:n.794+2825G>C | |
| ENST00000552941.5:c.734+2825G>C (CHURC1-FNTB) | ||
| ENST00000554334.5:n.660+2825G>C (FNTB) | ||
| ENST00000556709.1:n.471+2825G>C (FNTB) | ||
| NM_001202558.1:c.554+2825G>C (CHURC1-FNTB) | NP_001189487.1:n.554+2825G>C | |
| NM_001202559.1:c.875+2825G>C (CHURC1-FNTB) | NP_001189488.1:n.875+2825G>C | |
| NM_001271069.1:c.145-29237C>G (MAX) | NP_001257998.1:n.145-29237C>G | |
| NM_002028.3:c.692+2825G>C (FNTB) | NP_002019.1:n.692+2825G>C | |
| NM_197957.3:c.172-29237C>G (MAX) | NP_932061.1:n.172-29237C>G | |
| NM_002028.4:c.692+2825G>C (FNTB) MANE Select | NP_002019.1:n.692+2825G>C | |
| NM_001202558.2:c.554+2825G>C (CHURC1-FNTB) | NP_001189487.1:n.554+2825G>C | |
| NM_001271069.2:c.145-29237C>G (MAX) | NP_001257998.1:n.145-29237C>G | |
| NM_197957.4:c.172-29237C>G (MAX) | NP_932061.1:n.172-29237C>G |