Canonical Allele Identifier: CA377508523
Community Standard Title: NM_000043.6(FAS):c.341A>T (p.Glu114Val)
Gene: FAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89008895A>T , CM000672.2:g.89008895A>T GRCh38
NC_000010.10:g.90768652A>T , CM000672.1:g.90768652A>T GRCh37
NC_000010.9:g.90758632A>T NCBI36
NG_009089.2:g.23365A>T , LRG_134:g.23365A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000043.6:c.341A>T MANE Select NP_000034.1:p.Glu114Val
ENST00000652046.1:c.341A>T MANE Select ENSP00000498466.1:p.Glu114Val
NM_000043.4:c.341A>T , LRG_134t1:c.341A>T NP_000034.1:p.Glu114Val
NM_000043.5:c.341A>T NP_000034.1:p.Glu114Val
NM_001320619.1:c.341A>T NP_001307548.1:p.Glu114Val
NM_001320619.2:c.341A>T NP_001307548.1:p.Glu114Val
NM_152871.2:c.341A>T NP_690610.1:p.Glu114Val
NM_152871.3:c.341A>T NP_690610.1:p.Glu114Val
NM_152871.4:c.341A>T NP_690610.1:p.Glu114Val
NM_152872.2:c.341A>T NP_690611.1:p.Glu114Val
NM_152872.3:c.341A>T NP_690611.1:p.Glu114Val
NM_152872.4:c.341A>T NP_690611.1:p.Glu114Val
NR_028033.2:n.680+1058A>T
NR_028033.3:n.652+1058A>T
NR_028033.4:n.413+1058A>T
NR_028034.2:n.543-1644A>T
NR_028034.3:n.515-1644A>T
NR_028034.4:n.276-1644A>T
NR_028035.2:n.543-1644A>T
NR_028035.3:n.515-1644A>T
NR_028035.4:n.276-1644A>T
NR_028036.2:n.680+1058A>T
NR_028036.3:n.652+1058A>T
NR_028036.4:n.413+1058A>T
NR_135313.1:n.652+1058A>T
NR_135313.2:n.413+1058A>T
NR_135314.1:n.650A>T
NR_135314.2:n.507A>T
NR_135315.1:n.506-1644A>T
NR_135315.2:n.363-1644A>T
ENST00000313771.10:n.650A>T
ENST00000313771.9:n.650A>T
ENST00000352159.8:c.341A>T ENSP00000345601.4:p.Glu114Val
ENST00000355279.2:c.341A>T ENSP00000347426.2:p.Glu114Val
ENST00000355740.6:c.341A>T ENSP00000347979.2:p.Glu114Val
ENST00000355740.7:c.341A>T ENSP00000347979.3:p.Glu114Val
ENST00000355740.8:c.341A>T ENSP00000347979.3:p.Glu114Val
ENST00000357339.6:c.341A>T ENSP00000349896.2:p.Glu114Val
ENST00000357339.7:c.341A>T ENSP00000349896.2:p.Glu114Val
ENST00000371857.7:n.507A>T
ENST00000371857.8:n.551A>T
ENST00000460510.5:n.708A>T
ENST00000460510.6:c.-377A>T ENSP00000512812.1:n.-377A>T
ENST00000466081.5:n.503+1058A>T
ENST00000466081.6:n.503+1058A>T
ENST00000477270.5:n.504A>T
ENST00000477270.6:c.386A>T ENSP00000512813.1:p.Glu129Val
ENST00000479522.5:c.197-1644A>T ENSP00000424113.1:n.197-1644A>T
ENST00000479522.6:c.197-1644A>T ENSP00000424113.1:n.197-1644A>T
ENST00000484444.5:c.197-1644A>T ENSP00000420975.1:n.197-1644A>T
ENST00000484444.6:c.197-1644A>T ENSP00000420975.1:n.197-1644A>T
ENST00000487314.1:n.490A>T
ENST00000488877.5:c.334+1058A>T ENSP00000425159.1:n.334+1058A>T
ENST00000488877.6:c.334+1058A>T ENSP00000425159.1:n.334+1058A>T
ENST00000492756.5:c.334+1058A>T ENSP00000422453.1:n.334+1058A>T
ENST00000492756.7:c.334+1058A>T ENSP00000422453.1:n.334+1058A>T
ENST00000494410.5:c.334+1058A>T ENSP00000423755.1:n.334+1058A>T
ENST00000494799.5:n.351-1644A>T
ENST00000494799.6:c.-274-1644A>T ENSP00000512834.1:n.-274-1644A>T
ENST00000562983.2:n.527A>T
ENST00000562983.3:c.-377A>T ENSP00000512845.1:n.-377A>T
ENST00000612663.4:c.341A>T ENSP00000477997.2:p.Glu114Val
ENST00000612663.5:c.341A>T ENSP00000477997.3:p.Glu114Val
ENST00000612663.6:c.341A>T ENSP00000477997.3:p.Glu114Val
ENST00000615406.4:c.341A>T ENSP00000484575.1:p.Glu114Val
ENST00000626542.2:c.341A>T ENSP00000485876.1:p.Glu114Val
ENST00000640140.1:n.513A>T
ENST00000640140.2:n.486A>T
ENST00000640681.1:n.462A>T
ENST00000640681.2:n.445A>T
ENST00000690268.1:c.422A>T ENSP00000509810.1:p.Glu141Val
ENST00000696723.1:n.3974A>T
ENST00000696741.1:n.644A>T
ENST00000696742.1:n.523A>T
ENST00000696743.1:n.513A>T
ENST00000696744.1:n.380A>T
ENST00000696767.1:n.523A>T
ENST00000696768.1:c.341A>T ENSP00000512859.1:p.Glu114Val
ENST00000696769.1:n.695A>T
ENST00000696770.1:n.1575A>T
ENST00000696771.1:c.-314A>T ENSP00000512860.1:n.-314A>T
ENST00000696772.1:n.507A>T
ENST00000696773.1:n.500A>T
ENST00000696774.1:n.563A>T
ENST00000696775.1:n.616A>T
ENST00000696776.1:c.434A>T ENSP00000512861.1:p.Glu145Val
ENST00000696777.1:n.516+1058A>T
ENST00000696778.1:n.523A>T
ENST00000696779.1:c.197-1644A>T ENSP00000512862.1:n.197-1644A>T
ENST00000696780.1:c.434A>T ENSP00000512863.1:p.Glu145Val
ENST00000696781.1:c.334+1058A>T ENSP00000512864.1:n.334+1058A>T
ENST00000696782.1:c.341A>T ENSP00000512865.1:p.Glu114Val
ENST00000696992.1:n.1458A>T
ENST00000696995.1:n.523A>T
ENST00000696996.1:n.522A>T
ENST00000696997.1:c.341A>T ENSP00000513028.1:p.Glu114Val
ENST00000696998.1:n.363-1644A>T
ENST00000696999.1:c.-212+1058A>T ENSP00000513029.1:n.-212+1058A>T
ENST00000697035.1:c.341A>T ENSP00000513059.1:p.Glu114Val
ENST00000697036.1:c.334+1058A>T ENSP00000513060.1:n.334+1058A>T
ENST00000697037.1:n.376A>T
ENST00000697093.1:n.565A>T
ENST00000697094.1:n.480A>T
ENST00000697095.1:c.*1A>T ENSP00000513104.1:n.*1A>T
ENST00000697096.1:n.397A>T
ENST00000697097.1:c.-377A>T ENSP00000513105.1:n.-377A>T
XM_006717819.2:c.422A>T XP_006717882.1:p.Glu141Val
XM_006717819.3:c.422A>T XP_006717882.1:p.Glu141Val
XM_011539764.1:c.503A>T XP_011538066.1:p.Glu168Val
XM_011539764.2:c.503A>T XP_011538066.1:p.Glu168Val
XM_011539765.1:c.503A>T XP_011538067.1:p.Glu168Val
XM_011539765.2:c.503A>T XP_011538067.1:p.Glu168Val
XM_011539766.1:c.422A>T XP_011538068.1:p.Glu141Val
XM_011539766.2:c.422A>T XP_011538068.1:p.Glu141Val
XM_011539767.1:c.386A>T XP_011538069.1:p.Glu129Val
XM_011539767.3:c.386A>T XP_011538069.1:p.Glu129Val
XR_945732.1:n.511+1058A>T
XR_945732.3:n.511+1058A>T
XR_945733.1:n.511+1058A>T
XR_945733.2:n.511+1058A>T