Canonical Allele Identifier: CA377509739

Gene: FAS

Linked Data

• ClinVar Variation Id: 1055284
• ClinVar RCV Id: RCV001363929
• dbSNP Id: rs2119445796
• MyVariant Identifiers: chr10:g.90773959G>T (hg19) ; chr10:g.89014202G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014202G>T , CM000672.2:g.89014202G>T	GRCh38
NC_000010.10:g.90773959G>T , CM000672.1:g.90773959G>T	GRCh37
NC_000010.9:g.90763939G>T	NCBI36
NG_009089.2:g.28672G>T , LRG_134:g.28672G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1069G>T
ENST00000355740.8:c.*83G>T	ENSP00000347979.3:n.*83G>T
ENST00000357339.7:c.697G>T	ENSP00000349896.2:p.Val233Phe
ENST00000371857.8:n.2305G>T
ENST00000460510.6:c.43G>T	ENSP00000512812.1:p.Val15Phe
ENST00000466081.6:n.2409G>T
ENST00000477270.6:c.805G>T	ENSP00000512813.1:p.Val269Phe
ENST00000479522.6:c.*189G>T	ENSP00000424113.1:n.*189G>T
ENST00000484444.6:c.*201G>T	ENSP00000420975.1:n.*201G>T
ENST00000488877.6:c.651G>T	ENSP00000425159.1:n.651G>T
ENST00000492756.7:c.*189G>T	ENSP00000422453.1:n.*189G>T
ENST00000494799.6:c.43G>T	ENSP00000512834.1:p.Val15Phe
ENST00000562983.3:c.43G>T	ENSP00000512845.1:p.Val15Phe
ENST00000612663.6:c.*162G>T	ENSP00000477997.3:n.*162G>T
ENST00000640140.2:n.905G>T
ENST00000640250.2:n.259G>T
ENST00000640681.2:n.864G>T
ENST00000696723.1:n.4393G>T
ENST00000696741.1:n.2398G>T
ENST00000696742.1:n.2125G>T
ENST00000696743.1:n.3528G>T
ENST00000696744.1:n.799G>T
ENST00000696767.1:n.1094G>T
ENST00000696768.1:c.*83G>T	ENSP00000512859.1:n.*83G>T
ENST00000696769.1:n.2449G>T
ENST00000696771.1:c.43G>T	ENSP00000512860.1:p.Val15Phe
ENST00000696772.1:n.2363G>T
ENST00000696773.1:n.2102G>T
ENST00000696774.1:n.5870G>T
ENST00000696776.1:c.853G>T	ENSP00000512861.1:p.Val285Phe
ENST00000696777.1:n.2168G>T
ENST00000696778.1:n.1196G>T
ENST00000696779.1:c.367G>T	ENSP00000512862.1:p.Val123Phe
ENST00000696780.1:c.790G>T	ENSP00000512863.1:p.Val264Phe
ENST00000696781.1:c.505G>T	ENSP00000512864.1:p.Val169Phe
ENST00000696782.1:c.*162G>T	ENSP00000512865.1:n.*162G>T
ENST00000696783.1:n.2628G>T
ENST00000696992.1:n.1877G>T
ENST00000696995.1:n.4289G>T
ENST00000696996.1:n.2202G>T
ENST00000696997.1:c.*390G>T	ENSP00000513028.1:n.*390G>T
ENST00000696998.1:n.2014G>T
ENST00000696999.1:c.43G>T	ENSP00000513029.1:p.Val15Phe
ENST00000697035.1:c.*93G>T	ENSP00000513059.1:n.*93G>T
ENST00000697036.1:c.*176G>T	ENSP00000513060.1:n.*176G>T
ENST00000697037.1:n.795G>T
ENST00000697093.1:n.2996G>T
ENST00000697094.1:n.3343G>T
ENST00000697095.1:c.*1961G>T	ENSP00000513104.1:n.*1961G>T
ENST00000697096.1:n.1893G>T
ENST00000697097.1:c.43G>T	ENSP00000513105.1:p.Val15Phe
ENST00000562983.2:n.946G>T
ENST00000690268.1:c.841G>T	ENSP00000509810.1:p.Val281Phe
ENST00000355740.7:c.*86G>T	ENSP00000347979.3:n.*86G>T
ENST00000612663.5:c.*162G>T	ENSP00000477997.3:n.*162G>T
ENST00000640140.1:n.932G>T
ENST00000640250.1:n.259G>T
ENST00000640681.1:n.881G>T
ENST00000652046.1:c.760G>T MANE Select	ENSP00000498466.1:p.Val254Phe
ENST00000352159.8:c.*77G>T	ENSP00000345601.4:n.*77G>T
ENST00000355279.2:c.735G>T	ENSP00000347426.2:n.735G>T
ENST00000355740.6:c.760G>T	ENSP00000347979.2:p.Val254Phe
ENST00000357339.6:c.697G>T	ENSP00000349896.2:p.Val233Phe
ENST00000479522.5:c.*189G>T	ENSP00000424113.1:n.*189G>T
ENST00000484444.5:c.*201G>T	ENSP00000420975.1:n.*201G>T
ENST00000488877.5:c.*201G>T	ENSP00000425159.1:n.*201G>T
ENST00000492756.5:c.588G>T	ENSP00000422453.1:n.588G>T
ENST00000494410.5:c.*118G>T	ENSP00000423755.1:n.*118G>T
ENST00000494799.5:n.667G>T
ENST00000612663.4:c.*107G>T	ENSP00000477997.2:n.*107G>T
ENST00000615406.4:c.758G>T	ENSP00000484575.1:p.Cys253Phe
NM_000043.4:c.760G>T , LRG_134t1:c.760G>T	NP_000034.1:p.Val254Phe
NM_152871.2:c.697G>T	NP_690610.1:p.Val233Phe
NM_152872.2:c.*72G>T	NP_690611.1:n.*72G>T
NR_028033.2:n.934G>T
NR_028034.2:n.796G>T
NR_028035.2:n.859G>T
NR_028036.2:n.997G>T
XM_006717819.2:c.841G>T	XP_006717882.1:p.Val281Phe
XM_011539764.1:c.922G>T	XP_011538066.1:p.Val308Phe
XM_011539765.1:c.859G>T	XP_011538067.1:p.Val287Phe
XM_011539766.1:c.841G>T	XP_011538068.1:p.Val281Phe
XM_011539767.1:c.805G>T	XP_011538069.1:p.Val269Phe
XR_945732.1:n.828G>T
XR_945733.1:n.765G>T
NM_000043.5:c.760G>T	NP_000034.1:p.Val254Phe
NM_001320619.1:c.*83G>T	NP_001307548.1:n.*83G>T
NM_152871.3:c.697G>T	NP_690610.1:p.Val233Phe
NM_152872.3:c.*72G>T	NP_690611.1:n.*72G>T
NR_028033.3:n.906G>T
NR_028034.3:n.768G>T
NR_028035.3:n.831G>T
NR_028036.3:n.969G>T
NR_135313.1:n.886G>T
NR_135314.1:n.1069G>T
NR_135315.1:n.822G>T
XM_006717819.3:c.841G>T	XP_006717882.1:p.Val281Phe
XM_011539764.2:c.922G>T	XP_011538066.1:p.Val308Phe
XM_011539765.2:c.859G>T	XP_011538067.1:p.Val287Phe
XM_011539766.2:c.841G>T	XP_011538068.1:p.Val281Phe
XM_011539767.3:c.805G>T	XP_011538069.1:p.Val269Phe
XR_945732.3:n.828G>T
XR_945733.2:n.765G>T
NM_000043.6:c.760G>T MANE Select	NP_000034.1:p.Val254Phe
NM_001320619.2:c.*83G>T	NP_001307548.1:n.*83G>T
NM_152871.4:c.697G>T	NP_690610.1:p.Val233Phe
NM_152872.4:c.*72G>T	NP_690611.1:n.*72G>T
NR_028033.4:n.667G>T
NR_028034.4:n.529G>T
NR_028035.4:n.592G>T
NR_028036.4:n.730G>T
NR_135313.2:n.647G>T
NR_135314.2:n.926G>T
NR_135315.2:n.679G>T