Canonical Allele Identifier: CA377509673

Gene: FAS

Linked Data

• ClinVar Variation Id: 2575948
• ClinVar RCV Id: RCV003322009
• dbSNP Id: rs1848668661
• MyVariant Identifiers: chr10:g.90773930A>T (hg19) ; chr10:g.89014173A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014173A>T , CM000672.2:g.89014173A>T	GRCh38
NC_000010.10:g.90773930A>T , CM000672.1:g.90773930A>T	GRCh37
NC_000010.9:g.90763910A>T	NCBI36
NG_009089.2:g.28643A>T , LRG_134:g.28643A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1040A>T
ENST00000355740.8:c.*54A>T	ENSP00000347979.3:n.*54A>T
ENST00000357339.7:c.668A>T	ENSP00000349896.2:p.Gln223Leu
ENST00000371857.8:n.2276A>T
ENST00000460510.6:c.14A>T	ENSP00000512812.1:p.Gln5Leu
ENST00000466081.6:n.2380A>T
ENST00000477270.6:c.776A>T	ENSP00000512813.1:p.Gln259Leu
ENST00000479522.6:c.*160A>T	ENSP00000424113.1:n.*160A>T
ENST00000484444.6:c.*172A>T	ENSP00000420975.1:n.*172A>T
ENST00000488877.6:c.622A>T	ENSP00000425159.1:n.622A>T
ENST00000492756.7:c.*160A>T	ENSP00000422453.1:n.*160A>T
ENST00000494799.6:c.14A>T	ENSP00000512834.1:p.Gln5Leu
ENST00000562983.3:c.14A>T	ENSP00000512845.1:p.Gln5Leu
ENST00000612663.6:c.*133A>T	ENSP00000477997.3:n.*133A>T
ENST00000640140.2:n.876A>T
ENST00000640250.2:n.230A>T
ENST00000640681.2:n.835A>T
ENST00000696723.1:n.4364A>T
ENST00000696741.1:n.2369A>T
ENST00000696742.1:n.2096A>T
ENST00000696743.1:n.3499A>T
ENST00000696744.1:n.770A>T
ENST00000696767.1:n.1065A>T
ENST00000696768.1:c.*54A>T	ENSP00000512859.1:n.*54A>T
ENST00000696769.1:n.2420A>T
ENST00000696771.1:c.14A>T	ENSP00000512860.1:p.Gln5Leu
ENST00000696772.1:n.2334A>T
ENST00000696773.1:n.2073A>T
ENST00000696774.1:n.5841A>T
ENST00000696776.1:c.824A>T	ENSP00000512861.1:p.Gln275Leu
ENST00000696777.1:n.2139A>T
ENST00000696778.1:n.1167A>T
ENST00000696779.1:c.338A>T	ENSP00000512862.1:p.Gln113Leu
ENST00000696780.1:c.761A>T	ENSP00000512863.1:p.Gln254Leu
ENST00000696781.1:c.476A>T	ENSP00000512864.1:p.Gln159Leu
ENST00000696782.1:c.*133A>T	ENSP00000512865.1:n.*133A>T
ENST00000696783.1:n.2599A>T
ENST00000696992.1:n.1848A>T
ENST00000696995.1:n.4260A>T
ENST00000696996.1:n.2173A>T
ENST00000696997.1:c.*361A>T	ENSP00000513028.1:n.*361A>T
ENST00000696998.1:n.1985A>T
ENST00000696999.1:c.14A>T	ENSP00000513029.1:p.Gln5Leu
ENST00000697035.1:c.*64A>T	ENSP00000513059.1:n.*64A>T
ENST00000697036.1:c.*147A>T	ENSP00000513060.1:n.*147A>T
ENST00000697037.1:n.766A>T
ENST00000697093.1:n.2967A>T
ENST00000697094.1:n.3314A>T
ENST00000697095.1:c.*1932A>T	ENSP00000513104.1:n.*1932A>T
ENST00000697096.1:n.1864A>T
ENST00000697097.1:c.14A>T	ENSP00000513105.1:p.Gln5Leu
ENST00000562983.2:n.917A>T
ENST00000690268.1:c.812A>T	ENSP00000509810.1:p.Gln271Leu
ENST00000355740.7:c.*57A>T	ENSP00000347979.3:n.*57A>T
ENST00000612663.5:c.*133A>T	ENSP00000477997.3:n.*133A>T
ENST00000640140.1:n.903A>T
ENST00000640250.1:n.230A>T
ENST00000640681.1:n.852A>T
ENST00000652046.1:c.731A>T MANE Select	ENSP00000498466.1:p.Gln244Leu
ENST00000313771.9:n.1040A>T
ENST00000352159.8:c.*48A>T	ENSP00000345601.4:n.*48A>T
ENST00000355279.2:c.706A>T	ENSP00000347426.2:n.706A>T
ENST00000355740.6:c.731A>T	ENSP00000347979.2:p.Gln244Leu
ENST00000357339.6:c.668A>T	ENSP00000349896.2:p.Gln223Leu
ENST00000479522.5:c.*160A>T	ENSP00000424113.1:n.*160A>T
ENST00000484444.5:c.*172A>T	ENSP00000420975.1:n.*172A>T
ENST00000488877.5:c.*172A>T	ENSP00000425159.1:n.*172A>T
ENST00000492756.5:c.559A>T	ENSP00000422453.1:n.559A>T
ENST00000494410.5:c.*89A>T	ENSP00000423755.1:n.*89A>T
ENST00000494799.5:n.638A>T
ENST00000612663.4:c.*78A>T	ENSP00000477997.2:n.*78A>T
ENST00000615406.4:c.731A>T	ENSP00000484575.1:p.Gln244Leu
ENST00000626542.2:c.729A>T	ENSP00000485876.1:p.Ser243=
NM_000043.4:c.731A>T , LRG_134t1:c.731A>T	NP_000034.1:p.Gln244Leu
NM_152871.2:c.668A>T	NP_690610.1:p.Gln223Leu
NM_152872.2:c.*43A>T	NP_690611.1:n.*43A>T
NR_028033.2:n.905A>T
NR_028034.2:n.767A>T
NR_028035.2:n.830A>T
NR_028036.2:n.968A>T
XM_006717819.2:c.812A>T	XP_006717882.1:p.Gln271Leu
XM_011539764.1:c.893A>T	XP_011538066.1:p.Gln298Leu
XM_011539765.1:c.830A>T	XP_011538067.1:p.Gln277Leu
XM_011539766.1:c.812A>T	XP_011538068.1:p.Gln271Leu
XM_011539767.1:c.776A>T	XP_011538069.1:p.Gln259Leu
XR_945732.1:n.799A>T
XR_945733.1:n.736A>T
NM_000043.5:c.731A>T	NP_000034.1:p.Gln244Leu
NM_001320619.1:c.*54A>T	NP_001307548.1:n.*54A>T
NM_152871.3:c.668A>T	NP_690610.1:p.Gln223Leu
NM_152872.3:c.*43A>T	NP_690611.1:n.*43A>T
NR_028033.3:n.877A>T
NR_028034.3:n.739A>T
NR_028035.3:n.802A>T
NR_028036.3:n.940A>T
NR_135313.1:n.857A>T
NR_135314.1:n.1040A>T
NR_135315.1:n.793A>T
XM_006717819.3:c.812A>T	XP_006717882.1:p.Gln271Leu
XM_011539764.2:c.893A>T	XP_011538066.1:p.Gln298Leu
XM_011539765.2:c.830A>T	XP_011538067.1:p.Gln277Leu
XM_011539766.2:c.812A>T	XP_011538068.1:p.Gln271Leu
XM_011539767.3:c.776A>T	XP_011538069.1:p.Gln259Leu
XR_945732.3:n.799A>T
XR_945733.2:n.736A>T
NM_000043.6:c.731A>T MANE Select	NP_000034.1:p.Gln244Leu
NM_001320619.2:c.*54A>T	NP_001307548.1:n.*54A>T
NM_152871.4:c.668A>T	NP_690610.1:p.Gln223Leu
NM_152872.4:c.*43A>T	NP_690611.1:n.*43A>T
NR_028033.4:n.638A>T
NR_028034.4:n.500A>T
NR_028035.4:n.563A>T
NR_028036.4:n.701A>T
NR_135313.2:n.618A>T
NR_135314.2:n.897A>T
NR_135315.2:n.650A>T