Canonical Allele Identifier: CA377509831

Gene: FAS

Linked Data

• ClinVar Variation Id: 2170488
• ClinVar RCV Id: RCV003080563
• gnomAD v4: 10-89014238-A-C
• MyVariant Identifiers: chr10:g.90773995A>C (hg19) ; chr10:g.89014238A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014238A>C , CM000672.2:g.89014238A>C	GRCh38
NC_000010.10:g.90773995A>C , CM000672.1:g.90773995A>C	GRCh37
NC_000010.9:g.90763975A>C	NCBI36
NG_009089.2:g.28708A>C , LRG_134:g.28708A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1105A>C
ENST00000355740.8:c.*119A>C	ENSP00000347979.3:n.*119A>C
ENST00000357339.7:c.733A>C	ENSP00000349896.2:p.Asn245His
ENST00000371857.8:n.2341A>C
ENST00000460510.6:c.79A>C	ENSP00000512812.1:p.Asn27His
ENST00000466081.6:n.2445A>C
ENST00000477270.6:c.841A>C	ENSP00000512813.1:p.Asn281His
ENST00000479522.6:c.*225A>C	ENSP00000424113.1:n.*225A>C
ENST00000484444.6:c.*237A>C	ENSP00000420975.1:n.*237A>C
ENST00000488877.6:c.687A>C	ENSP00000425159.1:n.687A>C
ENST00000492756.7:c.*225A>C	ENSP00000422453.1:n.*225A>C
ENST00000494799.6:c.79A>C	ENSP00000512834.1:p.Asn27His
ENST00000562983.3:c.79A>C	ENSP00000512845.1:p.Asn27His
ENST00000612663.6:c.*198A>C	ENSP00000477997.3:n.*198A>C
ENST00000640140.2:n.941A>C
ENST00000640250.2:n.295A>C
ENST00000640681.2:n.900A>C
ENST00000696723.1:n.4429A>C
ENST00000696741.1:n.2434A>C
ENST00000696742.1:n.2161A>C
ENST00000696743.1:n.3564A>C
ENST00000696744.1:n.835A>C
ENST00000696767.1:n.1130A>C
ENST00000696768.1:c.*119A>C	ENSP00000512859.1:n.*119A>C
ENST00000696769.1:n.2485A>C
ENST00000696771.1:c.79A>C	ENSP00000512860.1:p.Asn27His
ENST00000696772.1:n.2399A>C
ENST00000696773.1:n.2138A>C
ENST00000696774.1:n.5906A>C
ENST00000696776.1:c.889A>C	ENSP00000512861.1:p.Asn297His
ENST00000696777.1:n.2204A>C
ENST00000696778.1:n.1232A>C
ENST00000696779.1:c.403A>C	ENSP00000512862.1:p.Asn135His
ENST00000696780.1:c.826A>C	ENSP00000512863.1:p.Asn276His
ENST00000696781.1:c.541A>C	ENSP00000512864.1:p.Asn181His
ENST00000696782.1:c.*198A>C	ENSP00000512865.1:n.*198A>C
ENST00000696783.1:n.2664A>C
ENST00000696992.1:n.1913A>C
ENST00000696995.1:n.4325A>C
ENST00000696996.1:n.2238A>C
ENST00000696997.1:c.*426A>C	ENSP00000513028.1:n.*426A>C
ENST00000696998.1:n.2050A>C
ENST00000696999.1:c.79A>C	ENSP00000513029.1:p.Asn27His
ENST00000697035.1:c.*129A>C	ENSP00000513059.1:n.*129A>C
ENST00000697036.1:c.*212A>C	ENSP00000513060.1:n.*212A>C
ENST00000697037.1:n.831A>C
ENST00000697093.1:n.3032A>C
ENST00000697094.1:n.3379A>C
ENST00000697095.1:c.*1997A>C	ENSP00000513104.1:n.*1997A>C
ENST00000697096.1:n.1929A>C
ENST00000697097.1:c.79A>C	ENSP00000513105.1:p.Asn27His
ENST00000562983.2:n.982A>C
ENST00000690268.1:c.877A>C	ENSP00000509810.1:p.Asn293His
ENST00000355740.7:c.*122A>C	ENSP00000347979.3:n.*122A>C
ENST00000612663.5:c.*198A>C	ENSP00000477997.3:n.*198A>C
ENST00000640140.1:n.968A>C
ENST00000640250.1:n.295A>C
ENST00000640681.1:n.917A>C
ENST00000652046.1:c.796A>C MANE Select	ENSP00000498466.1:p.Asn266His
ENST00000352159.8:c.*113A>C	ENSP00000345601.4:n.*113A>C
ENST00000355279.2:c.771A>C	ENSP00000347426.2:n.771A>C
ENST00000355740.6:c.796A>C	ENSP00000347979.2:p.Asn266His
ENST00000357339.6:c.733A>C	ENSP00000349896.2:p.Asn245His
ENST00000479522.5:c.*225A>C	ENSP00000424113.1:n.*225A>C
ENST00000484444.5:c.*237A>C	ENSP00000420975.1:n.*237A>C
ENST00000488877.5:c.*237A>C	ENSP00000425159.1:n.*237A>C
ENST00000492756.5:c.624A>C	ENSP00000422453.1:n.624A>C
ENST00000494410.5:c.*154A>C	ENSP00000423755.1:n.*154A>C
ENST00000612663.4:c.*143A>C	ENSP00000477997.2:n.*143A>C
NM_000043.4:c.796A>C , LRG_134t1:c.796A>C	NP_000034.1:p.Asn266His
NM_152871.2:c.733A>C	NP_690610.1:p.Asn245His
NM_152872.2:c.*108A>C	NP_690611.1:n.*108A>C
NR_028033.2:n.970A>C
NR_028034.2:n.832A>C
NR_028035.2:n.895A>C
NR_028036.2:n.1033A>C
XM_006717819.2:c.877A>C	XP_006717882.1:p.Asn293His
XM_011539764.1:c.958A>C	XP_011538066.1:p.Asn320His
XM_011539765.1:c.895A>C	XP_011538067.1:p.Asn299His
XM_011539766.1:c.877A>C	XP_011538068.1:p.Asn293His
XM_011539767.1:c.841A>C	XP_011538069.1:p.Asn281His
XR_945732.1:n.864A>C
XR_945733.1:n.801A>C
NM_000043.5:c.796A>C	NP_000034.1:p.Asn266His
NM_001320619.1:c.*119A>C	NP_001307548.1:n.*119A>C
NM_152871.3:c.733A>C	NP_690610.1:p.Asn245His
NM_152872.3:c.*108A>C	NP_690611.1:n.*108A>C
NR_028033.3:n.942A>C
NR_028034.3:n.804A>C
NR_028035.3:n.867A>C
NR_028036.3:n.1005A>C
NR_135313.1:n.922A>C
NR_135314.1:n.1105A>C
NR_135315.1:n.858A>C
XM_006717819.3:c.877A>C	XP_006717882.1:p.Asn293His
XM_011539764.2:c.958A>C	XP_011538066.1:p.Asn320His
XM_011539765.2:c.895A>C	XP_011538067.1:p.Asn299His
XM_011539766.2:c.877A>C	XP_011538068.1:p.Asn293His
XM_011539767.3:c.841A>C	XP_011538069.1:p.Asn281His
XR_945732.3:n.864A>C
XR_945733.2:n.801A>C
NM_000043.6:c.796A>C MANE Select	NP_000034.1:p.Asn266His
NM_001320619.2:c.*119A>C	NP_001307548.1:n.*119A>C
NM_152871.4:c.733A>C	NP_690610.1:p.Asn245His
NM_152872.4:c.*108A>C	NP_690611.1:n.*108A>C
NR_028033.4:n.703A>C
NR_028034.4:n.565A>C
NR_028035.4:n.628A>C
NR_028036.4:n.766A>C
NR_135313.2:n.683A>C
NR_135314.2:n.962A>C
NR_135315.2:n.715A>C