Canonical Allele Identifier: CA211334894

Gene: FAS

Linked Data

• ClinVar Variation Id: 1010289
• ClinVar RCV Id: RCV001307895
• dbSNP Id: rs962274229
• gnomAD v3: 10-89014142-A-G
• gnomAD v4: 10-89014142-A-G
• MyVariant Identifiers: chr10:g.90773899A>G (hg19) ; chr10:g.89014142A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014142A>G , CM000672.2:g.89014142A>G	GRCh38
NC_000010.10:g.90773899A>G , CM000672.1:g.90773899A>G	GRCh37
NC_000010.9:g.90763879A>G	NCBI36
NG_009089.2:g.28612A>G , LRG_134:g.28612A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1009A>G
ENST00000355740.8:c.*23A>G	ENSP00000347979.3:n.*23A>G
ENST00000357339.7:c.637A>G	ENSP00000349896.2:p.Thr213Ala
ENST00000371857.8:n.2245A>G
ENST00000460510.6:c.-18A>G	ENSP00000512812.1:n.-18A>G
ENST00000466081.6:n.2349A>G
ENST00000477270.6:c.745A>G	ENSP00000512813.1:p.Thr249Ala
ENST00000479522.6:c.*129A>G	ENSP00000424113.1:n.*129A>G
ENST00000484444.6:c.*141A>G	ENSP00000420975.1:n.*141A>G
ENST00000488877.6:c.591A>G	ENSP00000425159.1:n.591A>G
ENST00000492756.7:c.*129A>G	ENSP00000422453.1:n.*129A>G
ENST00000494799.6:c.-18A>G	ENSP00000512834.1:n.-18A>G
ENST00000562983.3:c.-18A>G	ENSP00000512845.1:n.-18A>G
ENST00000612663.6:c.*102A>G	ENSP00000477997.3:n.*102A>G
ENST00000640140.2:n.845A>G
ENST00000640250.2:n.199A>G
ENST00000640681.2:n.804A>G
ENST00000696723.1:n.4333A>G
ENST00000696741.1:n.2338A>G
ENST00000696742.1:n.2065A>G
ENST00000696743.1:n.3468A>G
ENST00000696744.1:n.739A>G
ENST00000696767.1:n.1034A>G
ENST00000696768.1:c.*23A>G	ENSP00000512859.1:n.*23A>G
ENST00000696769.1:n.2389A>G
ENST00000696771.1:c.-18A>G	ENSP00000512860.1:n.-18A>G
ENST00000696772.1:n.2303A>G
ENST00000696773.1:n.2042A>G
ENST00000696774.1:n.5810A>G
ENST00000696776.1:c.793A>G	ENSP00000512861.1:p.Thr265Ala
ENST00000696777.1:n.2108A>G
ENST00000696778.1:n.1136A>G
ENST00000696779.1:c.307A>G	ENSP00000512862.1:p.Thr103Ala
ENST00000696780.1:c.730A>G	ENSP00000512863.1:p.Thr244Ala
ENST00000696781.1:c.445A>G	ENSP00000512864.1:p.Thr149Ala
ENST00000696782.1:c.*102A>G	ENSP00000512865.1:n.*102A>G
ENST00000696783.1:n.2568A>G
ENST00000696992.1:n.1817A>G
ENST00000696995.1:n.4229A>G
ENST00000696996.1:n.2142A>G
ENST00000696997.1:c.*330A>G	ENSP00000513028.1:n.*330A>G
ENST00000696998.1:n.1954A>G
ENST00000696999.1:c.-18A>G	ENSP00000513029.1:n.-18A>G
ENST00000697035.1:c.*33A>G	ENSP00000513059.1:n.*33A>G
ENST00000697036.1:c.*116A>G	ENSP00000513060.1:n.*116A>G
ENST00000697037.1:n.735A>G
ENST00000697093.1:n.2936A>G
ENST00000697094.1:n.3283A>G
ENST00000697095.1:c.*1901A>G	ENSP00000513104.1:n.*1901A>G
ENST00000697096.1:n.1833A>G
ENST00000697097.1:c.-18A>G	ENSP00000513105.1:n.-18A>G
ENST00000562983.2:n.886A>G
ENST00000690268.1:c.781A>G	ENSP00000509810.1:p.Thr261Ala
ENST00000355740.7:c.*26A>G	ENSP00000347979.3:n.*26A>G
ENST00000612663.5:c.*102A>G	ENSP00000477997.3:n.*102A>G
ENST00000640140.1:n.872A>G
ENST00000640250.1:n.199A>G
ENST00000640681.1:n.821A>G
ENST00000652046.1:c.700A>G MANE Select	ENSP00000498466.1:p.Thr234Ala
ENST00000313771.9:n.1009A>G
ENST00000352159.8:c.*17A>G	ENSP00000345601.4:n.*17A>G
ENST00000355279.2:c.675A>G	ENSP00000347426.2:n.675A>G
ENST00000355740.6:c.700A>G	ENSP00000347979.2:p.Thr234Ala
ENST00000357339.6:c.637A>G	ENSP00000349896.2:p.Thr213Ala
ENST00000479522.5:c.*129A>G	ENSP00000424113.1:n.*129A>G
ENST00000484444.5:c.*141A>G	ENSP00000420975.1:n.*141A>G
ENST00000488877.5:c.*141A>G	ENSP00000425159.1:n.*141A>G
ENST00000492756.5:c.528A>G	ENSP00000422453.1:n.528A>G
ENST00000494410.5:c.*58A>G	ENSP00000423755.1:n.*58A>G
ENST00000494799.5:n.607A>G
ENST00000612663.4:c.*47A>G	ENSP00000477997.2:n.*47A>G
ENST00000615406.4:c.700A>G	ENSP00000484575.1:p.Thr234Ala
ENST00000626542.2:c.698A>G	ENSP00000485876.1:p.His233Arg
NM_000043.4:c.700A>G , LRG_134t1:c.700A>G	NP_000034.1:p.Thr234Ala
NM_152871.2:c.637A>G	NP_690610.1:p.Thr213Ala
NM_152872.2:c.*12A>G	NP_690611.1:n.*12A>G
NR_028033.2:n.874A>G
NR_028034.2:n.736A>G
NR_028035.2:n.799A>G
NR_028036.2:n.937A>G
XM_006717819.2:c.781A>G	XP_006717882.1:p.Thr261Ala
XM_011539764.1:c.862A>G	XP_011538066.1:p.Thr288Ala
XM_011539765.1:c.799A>G	XP_011538067.1:p.Thr267Ala
XM_011539766.1:c.781A>G	XP_011538068.1:p.Thr261Ala
XM_011539767.1:c.745A>G	XP_011538069.1:p.Thr249Ala
XR_945732.1:n.768A>G
XR_945733.1:n.705A>G
NM_000043.5:c.700A>G	NP_000034.1:p.Thr234Ala
NM_001320619.1:c.*23A>G	NP_001307548.1:n.*23A>G
NM_152871.3:c.637A>G	NP_690610.1:p.Thr213Ala
NM_152872.3:c.*12A>G	NP_690611.1:n.*12A>G
NR_028033.3:n.846A>G
NR_028034.3:n.708A>G
NR_028035.3:n.771A>G
NR_028036.3:n.909A>G
NR_135313.1:n.826A>G
NR_135314.1:n.1009A>G
NR_135315.1:n.762A>G
XM_006717819.3:c.781A>G	XP_006717882.1:p.Thr261Ala
XM_011539764.2:c.862A>G	XP_011538066.1:p.Thr288Ala
XM_011539765.2:c.799A>G	XP_011538067.1:p.Thr267Ala
XM_011539766.2:c.781A>G	XP_011538068.1:p.Thr261Ala
XM_011539767.3:c.745A>G	XP_011538069.1:p.Thr249Ala
XR_945732.3:n.768A>G
XR_945733.2:n.705A>G
NM_000043.6:c.700A>G MANE Select	NP_000034.1:p.Thr234Ala
NM_001320619.2:c.*23A>G	NP_001307548.1:n.*23A>G
NM_152871.4:c.637A>G	NP_690610.1:p.Thr213Ala
NM_152872.4:c.*12A>G	NP_690611.1:n.*12A>G
NR_028033.4:n.607A>G
NR_028034.4:n.469A>G
NR_028035.4:n.532A>G
NR_028036.4:n.670A>G
NR_135313.2:n.587A>G
NR_135314.2:n.866A>G
NR_135315.2:n.619A>G