Revel Score:
ENST00000432519
0.027
ENST00000334133 (MANE Select)
0.027
ENST00000451036
0.027
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000208 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.00001835 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.16377756C>T , CM000665.2:g.16377756C>T | GRCh38 |
| NC_000003.11:g.16419263C>T , CM000665.1:g.16419263C>T | GRCh37 |
| NC_000003.10:g.16394267C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334133.9:c.788G>A (RFTN1) MANE Select | ENSP00000334153.4:p.Ser263Asn | |
| ENST00000334133.8:c.788G>A (RFTN1) | ENSP00000334153.4:p.Ser263Asn | |
| ENST00000432519.5:c.680G>A (RFTN1) | ENSP00000403926.1:p.Ser227Asn | |
| ENST00000451036.5:c.788G>A (RFTN1) | ENSP00000403997.1:p.Ser263Asn | |
| NM_015150.1:c.788G>A (RFTN1) | NP_055965.1:p.Ser263Asn | |
| XM_005264985.1:c.788G>A (RFTN1) | XP_005265042.1:p.Ser263Asn | |
| XM_005264986.1:c.788G>A (RFTN1) | XP_005265043.1:p.Ser263Asn | |
| XM_005264987.2:c.698G>A (RFTN1) | XP_005265044.1:p.Ser233Asn | |
| XM_006713069.1:c.788G>A (RFTN1) | XP_006713132.1:p.Ser263Asn | |
| XM_011533529.1:c.893G>A (RFTN1) | XP_011531831.1:p.Ser298Asn | |
| XM_011533530.1:c.788G>A (RFTN1) | XP_011531832.1:p.Ser263Asn | |
| XM_011533531.1:c.893G>A (RFTN1) | XP_011531833.1:p.Ser298Asn | |
| XM_011534234.1:c.*31-6709C>T (OXNAD1) | XP_011532536.1:n.*31-6709C>T | |
| XM_005264986.2:c.788G>A (RFTN1) | XP_005265043.1:p.Ser263Asn | |
| XM_011534234.3:c.*31-6709C>T (OXNAD1) | XP_011532536.1:n.*31-6709C>T | |
| XM_017006005.1:c.893G>A (RFTN1) | XP_016861494.1:p.Ser298Asn | |
| XM_017006006.2:c.893G>A (RFTN1) | XP_016861495.1:p.Ser298Asn | |
| XM_017006007.2:c.788G>A (RFTN1) | XP_016861496.1:p.Ser263Asn | |
| XM_017007491.2:c.*31-6709C>T (OXNAD1) | XP_016862980.1:n.*31-6709C>T | |
| NM_015150.2:c.788G>A (RFTN1) MANE Select | NP_055965.1:p.Ser263Asn |