Canonical Allele Identifier: CA377509629

Gene: FAS

Linked Data

• ClinVar Variation Id: 2007233
• ClinVar RCV Id: RCV002842174
• dbSNP Id: rs1213958352
• gnomAD v2: 10-90773914-G-T
• gnomAD v4: 10-89014157-G-T
• MyVariant Identifiers: chr10:g.90773914G>T (hg19) ; chr10:g.89014157G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014157G>T , CM000672.2:g.89014157G>T	GRCh38
NC_000010.10:g.90773914G>T , CM000672.1:g.90773914G>T	GRCh37
NC_000010.9:g.90763894G>T	NCBI36
NG_009089.2:g.28627G>T , LRG_134:g.28627G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.1024G>T
ENST00000355740.8:c.*38G>T	ENSP00000347979.3:n.*38G>T
ENST00000357339.7:c.652G>T	ENSP00000349896.2:p.Val218Phe
ENST00000371857.8:n.2260G>T
ENST00000460510.6:c.-3G>T	ENSP00000512812.1:n.-3G>T
ENST00000466081.6:n.2364G>T
ENST00000477270.6:c.760G>T	ENSP00000512813.1:p.Val254Phe
ENST00000479522.6:c.*144G>T	ENSP00000424113.1:n.*144G>T
ENST00000484444.6:c.*156G>T	ENSP00000420975.1:n.*156G>T
ENST00000488877.6:c.606G>T	ENSP00000425159.1:n.606G>T
ENST00000492756.7:c.*144G>T	ENSP00000422453.1:n.*144G>T
ENST00000494799.6:c.-3G>T	ENSP00000512834.1:n.-3G>T
ENST00000562983.3:c.-3G>T	ENSP00000512845.1:n.-3G>T
ENST00000612663.6:c.*117G>T	ENSP00000477997.3:n.*117G>T
ENST00000640140.2:n.860G>T
ENST00000640250.2:n.214G>T
ENST00000640681.2:n.819G>T
ENST00000696723.1:n.4348G>T
ENST00000696741.1:n.2353G>T
ENST00000696742.1:n.2080G>T
ENST00000696743.1:n.3483G>T
ENST00000696744.1:n.754G>T
ENST00000696767.1:n.1049G>T
ENST00000696768.1:c.*38G>T	ENSP00000512859.1:n.*38G>T
ENST00000696769.1:n.2404G>T
ENST00000696771.1:c.-3G>T	ENSP00000512860.1:n.-3G>T
ENST00000696772.1:n.2318G>T
ENST00000696773.1:n.2057G>T
ENST00000696774.1:n.5825G>T
ENST00000696776.1:c.808G>T	ENSP00000512861.1:p.Val270Phe
ENST00000696777.1:n.2123G>T
ENST00000696778.1:n.1151G>T
ENST00000696779.1:c.322G>T	ENSP00000512862.1:p.Val108Phe
ENST00000696780.1:c.745G>T	ENSP00000512863.1:p.Val249Phe
ENST00000696781.1:c.460G>T	ENSP00000512864.1:p.Val154Phe
ENST00000696782.1:c.*117G>T	ENSP00000512865.1:n.*117G>T
ENST00000696783.1:n.2583G>T
ENST00000696992.1:n.1832G>T
ENST00000696995.1:n.4244G>T
ENST00000696996.1:n.2157G>T
ENST00000696997.1:c.*345G>T	ENSP00000513028.1:n.*345G>T
ENST00000696998.1:n.1969G>T
ENST00000696999.1:c.-3G>T	ENSP00000513029.1:n.-3G>T
ENST00000697035.1:c.*48G>T	ENSP00000513059.1:n.*48G>T
ENST00000697036.1:c.*131G>T	ENSP00000513060.1:n.*131G>T
ENST00000697037.1:n.750G>T
ENST00000697093.1:n.2951G>T
ENST00000697094.1:n.3298G>T
ENST00000697095.1:c.*1916G>T	ENSP00000513104.1:n.*1916G>T
ENST00000697096.1:n.1848G>T
ENST00000697097.1:c.-3G>T	ENSP00000513105.1:n.-3G>T
ENST00000562983.2:n.901G>T
ENST00000690268.1:c.796G>T	ENSP00000509810.1:p.Val266Phe
ENST00000355740.7:c.*41G>T	ENSP00000347979.3:n.*41G>T
ENST00000612663.5:c.*117G>T	ENSP00000477997.3:n.*117G>T
ENST00000640140.1:n.887G>T
ENST00000640250.1:n.214G>T
ENST00000640681.1:n.836G>T
ENST00000652046.1:c.715G>T MANE Select	ENSP00000498466.1:p.Val239Phe
ENST00000313771.9:n.1024G>T
ENST00000352159.8:c.*32G>T	ENSP00000345601.4:n.*32G>T
ENST00000355279.2:c.690G>T	ENSP00000347426.2:n.690G>T
ENST00000355740.6:c.715G>T	ENSP00000347979.2:p.Val239Phe
ENST00000357339.6:c.652G>T	ENSP00000349896.2:p.Val218Phe
ENST00000479522.5:c.*144G>T	ENSP00000424113.1:n.*144G>T
ENST00000484444.5:c.*156G>T	ENSP00000420975.1:n.*156G>T
ENST00000488877.5:c.*156G>T	ENSP00000425159.1:n.*156G>T
ENST00000492756.5:c.543G>T	ENSP00000422453.1:n.543G>T
ENST00000494410.5:c.*73G>T	ENSP00000423755.1:n.*73G>T
ENST00000494799.5:n.622G>T
ENST00000612663.4:c.*62G>T	ENSP00000477997.2:n.*62G>T
ENST00000615406.4:c.715G>T	ENSP00000484575.1:p.Val239Phe
ENST00000626542.2:c.713G>T	ENSP00000485876.1:p.Ser238Ile
NM_000043.4:c.715G>T , LRG_134t1:c.715G>T	NP_000034.1:p.Val239Phe
NM_152871.2:c.652G>T	NP_690610.1:p.Val218Phe
NM_152872.2:c.*27G>T	NP_690611.1:n.*27G>T
NR_028033.2:n.889G>T
NR_028034.2:n.751G>T
NR_028035.2:n.814G>T
NR_028036.2:n.952G>T
XM_006717819.2:c.796G>T	XP_006717882.1:p.Val266Phe
XM_011539764.1:c.877G>T	XP_011538066.1:p.Val293Phe
XM_011539765.1:c.814G>T	XP_011538067.1:p.Val272Phe
XM_011539766.1:c.796G>T	XP_011538068.1:p.Val266Phe
XM_011539767.1:c.760G>T	XP_011538069.1:p.Val254Phe
XR_945732.1:n.783G>T
XR_945733.1:n.720G>T
NM_000043.5:c.715G>T	NP_000034.1:p.Val239Phe
NM_001320619.1:c.*38G>T	NP_001307548.1:n.*38G>T
NM_152871.3:c.652G>T	NP_690610.1:p.Val218Phe
NM_152872.3:c.*27G>T	NP_690611.1:n.*27G>T
NR_028033.3:n.861G>T
NR_028034.3:n.723G>T
NR_028035.3:n.786G>T
NR_028036.3:n.924G>T
NR_135313.1:n.841G>T
NR_135314.1:n.1024G>T
NR_135315.1:n.777G>T
XM_006717819.3:c.796G>T	XP_006717882.1:p.Val266Phe
XM_011539764.2:c.877G>T	XP_011538066.1:p.Val293Phe
XM_011539765.2:c.814G>T	XP_011538067.1:p.Val272Phe
XM_011539766.2:c.796G>T	XP_011538068.1:p.Val266Phe
XM_011539767.3:c.760G>T	XP_011538069.1:p.Val254Phe
XR_945732.3:n.783G>T
XR_945733.2:n.720G>T
NM_000043.6:c.715G>T MANE Select	NP_000034.1:p.Val239Phe
NM_001320619.2:c.*38G>T	NP_001307548.1:n.*38G>T
NM_152871.4:c.652G>T	NP_690610.1:p.Val218Phe
NM_152872.4:c.*27G>T	NP_690611.1:n.*27G>T
NR_028033.4:n.622G>T
NR_028034.4:n.484G>T
NR_028035.4:n.547G>T
NR_028036.4:n.685G>T
NR_135313.2:n.602G>T
NR_135314.2:n.881G>T
NR_135315.2:n.634G>T