Canonical Allele Identifier: CA377509839
Gene: FAS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89014241G>C , CM000672.2:g.89014241G>C GRCh38
NC_000010.10:g.90773998G>C , CM000672.1:g.90773998G>C GRCh37
NC_000010.9:g.90763978G>C NCBI36
NG_009089.2:g.28711G>C , LRG_134:g.28711G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000313771.10:n.1108G>C
ENST00000355740.8:c.*122G>C ENSP00000347979.3:n.*122G>C
ENST00000357339.7:c.736G>C ENSP00000349896.2:p.Val246Leu
ENST00000371857.8:n.2344G>C
ENST00000460510.6:c.82G>C ENSP00000512812.1:p.Val28Leu
ENST00000466081.6:n.2448G>C
ENST00000477270.6:c.844G>C ENSP00000512813.1:p.Val282Leu
ENST00000479522.6:c.*228G>C ENSP00000424113.1:n.*228G>C
ENST00000484444.6:c.*240G>C ENSP00000420975.1:n.*240G>C
ENST00000488877.6:c.690G>C ENSP00000425159.1:n.690G>C
ENST00000492756.7:c.*228G>C ENSP00000422453.1:n.*228G>C
ENST00000494799.6:c.82G>C ENSP00000512834.1:p.Val28Leu
ENST00000562983.3:c.82G>C ENSP00000512845.1:p.Val28Leu
ENST00000612663.6:c.*201G>C ENSP00000477997.3:n.*201G>C
ENST00000640140.2:n.944G>C
ENST00000640250.2:n.298G>C
ENST00000640681.2:n.903G>C
ENST00000696723.1:n.4432G>C
ENST00000696741.1:n.2437G>C
ENST00000696742.1:n.2164G>C
ENST00000696743.1:n.3567G>C
ENST00000696744.1:n.838G>C
ENST00000696767.1:n.1133G>C
ENST00000696768.1:c.*122G>C ENSP00000512859.1:n.*122G>C
ENST00000696769.1:n.2488G>C
ENST00000696771.1:c.82G>C ENSP00000512860.1:p.Val28Leu
ENST00000696772.1:n.2402G>C
ENST00000696773.1:n.2141G>C
ENST00000696774.1:n.5909G>C
ENST00000696776.1:c.892G>C ENSP00000512861.1:p.Val298Leu
ENST00000696777.1:n.2207G>C
ENST00000696778.1:n.1235G>C
ENST00000696779.1:c.406G>C ENSP00000512862.1:p.Val136Leu
ENST00000696780.1:c.829G>C ENSP00000512863.1:p.Val277Leu
ENST00000696781.1:c.544G>C ENSP00000512864.1:p.Val182Leu
ENST00000696782.1:c.*201G>C ENSP00000512865.1:n.*201G>C
ENST00000696783.1:n.2667G>C
ENST00000696992.1:n.1916G>C
ENST00000696995.1:n.4328G>C
ENST00000696996.1:n.2241G>C
ENST00000696997.1:c.*429G>C ENSP00000513028.1:n.*429G>C
ENST00000696998.1:n.2053G>C
ENST00000696999.1:c.82G>C ENSP00000513029.1:p.Val28Leu
ENST00000697035.1:c.*132G>C ENSP00000513059.1:n.*132G>C
ENST00000697036.1:c.*215G>C ENSP00000513060.1:n.*215G>C
ENST00000697037.1:n.834G>C
ENST00000697093.1:n.3035G>C
ENST00000697094.1:n.3382G>C
ENST00000697095.1:c.*2000G>C ENSP00000513104.1:n.*2000G>C
ENST00000697096.1:n.1932G>C
ENST00000697097.1:c.82G>C ENSP00000513105.1:p.Val28Leu
ENST00000562983.2:n.985G>C
ENST00000690268.1:c.880G>C ENSP00000509810.1:p.Val294Leu
ENST00000355740.7:c.*125G>C ENSP00000347979.3:n.*125G>C
ENST00000612663.5:c.*201G>C ENSP00000477997.3:n.*201G>C
ENST00000640140.1:n.971G>C
ENST00000640250.1:n.298G>C
ENST00000640681.1:n.920G>C
ENST00000652046.1:c.799G>C MANE Select ENSP00000498466.1:p.Val267Leu
ENST00000352159.8:c.*116G>C ENSP00000345601.4:n.*116G>C
ENST00000355279.2:c.774G>C ENSP00000347426.2:n.774G>C
ENST00000355740.6:c.799G>C ENSP00000347979.2:p.Val267Leu
ENST00000357339.6:c.736G>C ENSP00000349896.2:p.Val246Leu
ENST00000479522.5:c.*228G>C ENSP00000424113.1:n.*228G>C
ENST00000484444.5:c.*240G>C ENSP00000420975.1:n.*240G>C
ENST00000488877.5:c.*240G>C ENSP00000425159.1:n.*240G>C
ENST00000492756.5:c.627G>C ENSP00000422453.1:n.627G>C
ENST00000494410.5:c.*157G>C ENSP00000423755.1:n.*157G>C
ENST00000612663.4:c.*146G>C ENSP00000477997.2:n.*146G>C
NM_000043.4:c.799G>C , LRG_134t1:c.799G>C NP_000034.1:p.Val267Leu
NM_152871.2:c.736G>C NP_690610.1:p.Val246Leu
NM_152872.2:c.*111G>C NP_690611.1:n.*111G>C
NR_028033.2:n.973G>C
NR_028034.2:n.835G>C
NR_028035.2:n.898G>C
NR_028036.2:n.1036G>C
XM_006717819.2:c.880G>C XP_006717882.1:p.Val294Leu
XM_011539764.1:c.961G>C XP_011538066.1:p.Val321Leu
XM_011539765.1:c.898G>C XP_011538067.1:p.Val300Leu
XM_011539766.1:c.880G>C XP_011538068.1:p.Val294Leu
XM_011539767.1:c.844G>C XP_011538069.1:p.Val282Leu
XR_945732.1:n.867G>C
XR_945733.1:n.804G>C
NM_000043.5:c.799G>C NP_000034.1:p.Val267Leu
NM_001320619.1:c.*122G>C NP_001307548.1:n.*122G>C
NM_152871.3:c.736G>C NP_690610.1:p.Val246Leu
NM_152872.3:c.*111G>C NP_690611.1:n.*111G>C
NR_028033.3:n.945G>C
NR_028034.3:n.807G>C
NR_028035.3:n.870G>C
NR_028036.3:n.1008G>C
NR_135313.1:n.925G>C
NR_135314.1:n.1108G>C
NR_135315.1:n.861G>C
XM_006717819.3:c.880G>C XP_006717882.1:p.Val294Leu
XM_011539764.2:c.961G>C XP_011538066.1:p.Val321Leu
XM_011539765.2:c.898G>C XP_011538067.1:p.Val300Leu
XM_011539766.2:c.880G>C XP_011538068.1:p.Val294Leu
XM_011539767.3:c.844G>C XP_011538069.1:p.Val282Leu
XR_945732.3:n.867G>C
XR_945733.2:n.804G>C
NM_000043.6:c.799G>C MANE Select NP_000034.1:p.Val267Leu
NM_001320619.2:c.*122G>C NP_001307548.1:n.*122G>C
NM_152871.4:c.736G>C NP_690610.1:p.Val246Leu
NM_152872.4:c.*111G>C NP_690611.1:n.*111G>C
NR_028033.4:n.706G>C
NR_028034.4:n.568G>C
NR_028035.4:n.631G>C
NR_028036.4:n.769G>C
NR_135313.2:n.686G>C
NR_135314.2:n.965G>C
NR_135315.2:n.718G>C