Canonical Allele Identifier: CA5593175
Gene: FAS HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89012071C>T , CM000672.2:g.89012071C>T GRCh38
NC_000010.10:g.90771828C>T , CM000672.1:g.90771828C>T GRCh37
NC_000010.9:g.90761808C>T NCBI36
NG_009089.2:g.26541C>T , LRG_134:g.26541C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313771.10:n.950C>T
ENST00000355740.8:c.568+1256C>T ENSP00000347979.3:n.568+1256C>T
ENST00000357339.7:c.578C>T ENSP00000349896.2:p.Thr193Ile
ENST00000371857.8:n.2186C>T
ENST00000460510.6:c.-77C>T ENSP00000512812.1:n.-77C>T
ENST00000466081.6:n.2036C>T
ENST00000477270.6:c.686C>T ENSP00000512813.1:p.Thr229Ile
ENST00000479522.6:c.*70C>T ENSP00000424113.1:n.*70C>T
ENST00000484444.6:c.*82C>T ENSP00000420975.1:n.*82C>T
ENST00000488877.6:c.532C>T ENSP00000425159.1:n.532C>T
ENST00000492756.7:c.*70C>T ENSP00000422453.1:n.*70C>T
ENST00000494799.6:c.-77C>T ENSP00000512834.1:n.-77C>T
ENST00000562983.3:c.-77C>T ENSP00000512845.1:n.-77C>T
ENST00000612663.6:c.641C>T ENSP00000477997.3:p.Thr214Ile
ENST00000640140.2:n.786C>T
ENST00000640681.2:n.745C>T
ENST00000696723.1:n.4274C>T
ENST00000696741.1:n.2279C>T
ENST00000696742.1:n.2006C>T
ENST00000696743.1:n.2148C>T
ENST00000696744.1:n.680C>T
ENST00000696767.1:n.975C>T
ENST00000696768.1:c.506-1272C>T ENSP00000512859.1:n.506-1272C>T
ENST00000696769.1:n.2330C>T
ENST00000696770.1:n.4751C>T
ENST00000696771.1:c.-77C>T ENSP00000512860.1:n.-77C>T
ENST00000696772.1:n.1990C>T
ENST00000696773.1:n.1983C>T
ENST00000696774.1:n.3739C>T
ENST00000696776.1:c.734C>T ENSP00000512861.1:p.Thr245Ile
ENST00000696777.1:n.2049C>T
ENST00000696778.1:n.823C>T
ENST00000696779.1:c.259-1272C>T ENSP00000512862.1:n.259-1272C>T
ENST00000696780.1:c.671C>T ENSP00000512863.1:p.Thr224Ile
ENST00000696781.1:c.397-1272C>T ENSP00000512864.1:n.397-1272C>T
ENST00000696782.1:c.578C>T ENSP00000512865.1:p.Thr193Ile
ENST00000696783.1:n.2509C>T
ENST00000696992.1:n.1758C>T
ENST00000696995.1:n.2158C>T
ENST00000696996.1:n.822C>T
ENST00000696997.1:c.*271C>T ENSP00000513028.1:n.*271C>T
ENST00000696998.1:n.1895C>T
ENST00000696999.1:c.-77C>T ENSP00000513029.1:n.-77C>T
ENST00000697035.1:c.641C>T ENSP00000513059.1:p.Thr214Ile
ENST00000697036.1:c.*82C>T ENSP00000513060.1:n.*82C>T
ENST00000697037.1:n.676C>T
ENST00000697093.1:n.865C>T
ENST00000697094.1:n.1963C>T
ENST00000697095.1:c.*1842C>T ENSP00000513104.1:n.*1842C>T
ENST00000697096.1:n.1774C>T
ENST00000697097.1:c.-77C>T ENSP00000513105.1:n.-77C>T
ENST00000562983.2:n.827C>T
ENST00000690268.1:c.722C>T ENSP00000509810.1:p.Thr241Ile
ENST00000355740.7:c.568+1256C>T ENSP00000347979.3:n.568+1256C>T
ENST00000612663.5:c.641C>T ENSP00000477997.3:p.Thr214Ile
ENST00000640140.1:n.813C>T
ENST00000640681.1:n.762C>T
ENST00000652046.1:c.641C>T MANE Select ENSP00000498466.1:p.Thr214Ile
ENST00000313771.9:n.950C>T
ENST00000352159.8:c.641C>T ENSP00000345601.4:p.Thr214Ile
ENST00000355279.2:c.641C>T ENSP00000347426.2:p.Thr214Ile
ENST00000355740.6:c.641C>T ENSP00000347979.2:p.Thr214Ile
ENST00000357339.6:c.578C>T ENSP00000349896.2:p.Thr193Ile
ENST00000479522.5:c.*70C>T ENSP00000424113.1:n.*70C>T
ENST00000484444.5:c.*82C>T ENSP00000420975.1:n.*82C>T
ENST00000487314.1:n.790C>T
ENST00000488877.5:c.*82C>T ENSP00000425159.1:n.*82C>T
ENST00000492756.5:c.469C>T ENSP00000422453.1:n.469C>T
ENST00000494410.5:c.*9+1256C>T ENSP00000423755.1:n.*9+1256C>T
ENST00000494799.5:n.548C>T
ENST00000612663.4:c.639C>T ENSP00000477997.2:p.Asn213=
ENST00000615406.4:c.641C>T ENSP00000484575.1:p.Thr214Ile
ENST00000626542.2:c.641C>T ENSP00000485876.1:p.Thr214Ile
NM_000043.4:c.641C>T , LRG_134t1:c.641C>T NP_000034.1:p.Thr214Ile
NM_152871.2:c.578C>T NP_690610.1:p.Thr193Ile
NM_152872.2:c.641C>T NP_690611.1:p.Thr214Ile
NR_028033.2:n.815C>T
NR_028034.2:n.677C>T
NR_028035.2:n.740C>T
NR_028036.2:n.878C>T
XM_006717819.2:c.722C>T XP_006717882.1:p.Thr241Ile
XM_011539764.1:c.803C>T XP_011538066.1:p.Thr268Ile
XM_011539765.1:c.740C>T XP_011538067.1:p.Thr247Ile
XM_011539766.1:c.722C>T XP_011538068.1:p.Thr241Ile
XM_011539767.1:c.686C>T XP_011538069.1:p.Thr229Ile
XR_945732.1:n.709C>T
XR_945733.1:n.646C>T
NM_000043.5:c.641C>T NP_000034.1:p.Thr214Ile
NM_001320619.1:c.568+1256C>T NP_001307548.1:n.568+1256C>T
NM_152871.3:c.578C>T NP_690610.1:p.Thr193Ile
NM_152872.3:c.641C>T NP_690611.1:p.Thr214Ile
NR_028033.3:n.787C>T
NR_028034.3:n.649C>T
NR_028035.3:n.712C>T
NR_028036.3:n.850C>T
NR_135313.1:n.777+1256C>T
NR_135314.1:n.950C>T
NR_135315.1:n.703C>T
XM_006717819.3:c.722C>T XP_006717882.1:p.Thr241Ile
XM_011539764.2:c.803C>T XP_011538066.1:p.Thr268Ile
XM_011539765.2:c.740C>T XP_011538067.1:p.Thr247Ile
XM_011539766.2:c.722C>T XP_011538068.1:p.Thr241Ile
XM_011539767.3:c.686C>T XP_011538069.1:p.Thr229Ile
XR_945732.3:n.709C>T
XR_945733.2:n.646C>T
NM_000043.6:c.641C>T MANE Select NP_000034.1:p.Thr214Ile
NM_001320619.2:c.568+1256C>T NP_001307548.1:n.568+1256C>T
NM_152871.4:c.578C>T NP_690610.1:p.Thr193Ile
NM_152872.4:c.641C>T NP_690611.1:p.Thr214Ile
NR_028033.4:n.548C>T
NR_028034.4:n.410C>T
NR_028035.4:n.473C>T
NR_028036.4:n.611C>T
NR_135313.2:n.538+1256C>T
NR_135314.2:n.807C>T
NR_135315.2:n.560C>T