Canonical Allele Identifier: CA126606

Gene: FAS

Linked Data

• ClinVar Variation Id: 16514
• ClinVar RCV Id: RCV000017978 ; RCV001382233
• dbSNP Id: rs267607122
• MyVariant Identifiers: chr10:g.90771840T>C (hg19) ; chr10:g.89012083T>C (hg38)
• PubMed: PMID:10515860 ; PMID:15459302

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89012083T>C , CM000672.2:g.89012083T>C	GRCh38
NC_000010.10:g.90771840T>C , CM000672.1:g.90771840T>C	GRCh37
NC_000010.9:g.90761820T>C	NCBI36
NG_009089.2:g.26553T>C , LRG_134:g.26553T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.960+2T>C
ENST00000355740.8:c.569-1260T>C	ENSP00000347979.3:n.569-1260T>C
ENST00000357339.7:c.588+2T>C	ENSP00000349896.2:n.588+2T>C
ENST00000371857.8:n.2196+2T>C
ENST00000460510.6:c.-67+2T>C	ENSP00000512812.1:n.-67+2T>C
ENST00000466081.6:n.2048T>C
ENST00000477270.6:c.696+2T>C	ENSP00000512813.1:n.696+2T>C
ENST00000479522.6:c.*80+2T>C	ENSP00000424113.1:n.*80+2T>C
ENST00000484444.6:c.*92+2T>C	ENSP00000420975.1:n.*92+2T>C
ENST00000488877.6:c.542+2T>C	ENSP00000425159.1:n.542+2T>C
ENST00000492756.7:c.*80+2T>C	ENSP00000422453.1:n.*80+2T>C
ENST00000494799.6:c.-67+2T>C	ENSP00000512834.1:n.-67+2T>C
ENST00000562983.3:c.-67+2T>C	ENSP00000512845.1:n.-67+2T>C
ENST00000612663.6:c.651+2T>C	ENSP00000477997.3:n.651+2T>C
ENST00000640140.2:n.796+2T>C
ENST00000640681.2:n.755+2T>C
ENST00000696723.1:n.4284+2T>C
ENST00000696741.1:n.2289+2T>C
ENST00000696742.1:n.2016+2T>C
ENST00000696743.1:n.2160T>C
ENST00000696744.1:n.690+2T>C
ENST00000696767.1:n.985+2T>C
ENST00000696768.1:c.506-1260T>C	ENSP00000512859.1:n.506-1260T>C
ENST00000696769.1:n.2340+2T>C
ENST00000696770.1:n.4763T>C
ENST00000696771.1:c.-67+2T>C	ENSP00000512860.1:n.-67+2T>C
ENST00000696772.1:n.2002T>C
ENST00000696773.1:n.1993+2T>C
ENST00000696774.1:n.3751T>C
ENST00000696776.1:c.744+2T>C	ENSP00000512861.1:n.744+2T>C
ENST00000696777.1:n.2059+2T>C
ENST00000696778.1:n.835T>C
ENST00000696779.1:c.259-1260T>C	ENSP00000512862.1:n.259-1260T>C
ENST00000696780.1:c.681+2T>C	ENSP00000512863.1:n.681+2T>C
ENST00000696781.1:c.397-1260T>C	ENSP00000512864.1:n.397-1260T>C
ENST00000696782.1:c.588+2T>C	ENSP00000512865.1:n.588+2T>C
ENST00000696783.1:n.2519+2T>C
ENST00000696992.1:n.1768+2T>C
ENST00000696995.1:n.2170T>C
ENST00000696996.1:n.834T>C
ENST00000696997.1:c.*281+2T>C	ENSP00000513028.1:n.*281+2T>C
ENST00000696998.1:n.1905+2T>C
ENST00000696999.1:c.-67+2T>C	ENSP00000513029.1:n.-67+2T>C
ENST00000697035.1:c.651+2T>C	ENSP00000513059.1:n.651+2T>C
ENST00000697036.1:c.*92+2T>C	ENSP00000513060.1:n.*92+2T>C
ENST00000697037.1:n.686+2T>C
ENST00000697093.1:n.877T>C
ENST00000697094.1:n.1975T>C
ENST00000697095.1:c.*1852+2T>C	ENSP00000513104.1:n.*1852+2T>C
ENST00000697096.1:n.1784+2T>C
ENST00000697097.1:c.-67+2T>C	ENSP00000513105.1:n.-67+2T>C
ENST00000562983.2:n.837+2T>C
ENST00000690268.1:c.732+2T>C	ENSP00000509810.1:n.732+2T>C
ENST00000355740.7:c.569-1260T>C	ENSP00000347979.3:n.569-1260T>C
ENST00000612663.5:c.651+2T>C	ENSP00000477997.3:n.651+2T>C
ENST00000640140.1:n.823+2T>C
ENST00000640681.1:n.772+2T>C
ENST00000652046.1:c.651+2T>C MANE Select	ENSP00000498466.1:n.651+2T>C
ENST00000313771.9:n.960+2T>C
ENST00000352159.8:c.651+2T>C	ENSP00000345601.4:n.651+2T>C
ENST00000355279.2:c.651+2T>C	ENSP00000347426.2:n.651+2T>C
ENST00000355740.6:c.651+2T>C	ENSP00000347979.2:n.651+2T>C
ENST00000357339.6:c.588+2T>C	ENSP00000349896.2:n.588+2T>C
ENST00000479522.5:c.*80+2T>C	ENSP00000424113.1:n.*80+2T>C
ENST00000484444.5:c.*92+2T>C	ENSP00000420975.1:n.*92+2T>C
ENST00000487314.1:n.800+2T>C
ENST00000488877.5:c.*92+2T>C	ENSP00000425159.1:n.*92+2T>C
ENST00000492756.5:c.479+2T>C	ENSP00000422453.1:n.479+2T>C
ENST00000494410.5:c.*10-1260T>C	ENSP00000423755.1:n.*10-1260T>C
ENST00000494799.5:n.558+2T>C
ENST00000612663.4:c.649+2T>C	ENSP00000477997.2:n.649+2T>C
ENST00000615406.4:c.651+2T>C	ENSP00000484575.1:n.651+2T>C
ENST00000626542.2:c.651+2T>C	ENSP00000485876.1:n.651+2T>C
NM_000043.4:c.651+2T>C , LRG_134t1:c.651+2T>C	NP_000034.1:n.651+2T>C
NM_152871.2:c.588+2T>C	NP_690610.1:n.588+2T>C
NM_152872.2:c.651+2T>C	NP_690611.1:n.651+2T>C
NR_028033.2:n.825+2T>C
NR_028034.2:n.687+2T>C
NR_028035.2:n.750+2T>C
NR_028036.2:n.888+2T>C
XM_006717819.2:c.732+2T>C	XP_006717882.1:n.732+2T>C
XM_011539764.1:c.813+2T>C	XP_011538066.1:n.813+2T>C
XM_011539765.1:c.750+2T>C	XP_011538067.1:n.750+2T>C
XM_011539766.1:c.732+2T>C	XP_011538068.1:n.732+2T>C
XM_011539767.1:c.696+2T>C	XP_011538069.1:n.696+2T>C
XR_945732.1:n.719+2T>C
XR_945733.1:n.656+2T>C
NM_000043.5:c.651+2T>C	NP_000034.1:n.651+2T>C
NM_001320619.1:c.569-1260T>C	NP_001307548.1:n.569-1260T>C
NM_152871.3:c.588+2T>C	NP_690610.1:n.588+2T>C
NM_152872.3:c.651+2T>C	NP_690611.1:n.651+2T>C
NR_028033.3:n.797+2T>C
NR_028034.3:n.659+2T>C
NR_028035.3:n.722+2T>C
NR_028036.3:n.860+2T>C
NR_135313.1:n.778-1260T>C
NR_135314.1:n.960+2T>C
NR_135315.1:n.713+2T>C
XM_006717819.3:c.732+2T>C	XP_006717882.1:n.732+2T>C
XM_011539764.2:c.813+2T>C	XP_011538066.1:n.813+2T>C
XM_011539765.2:c.750+2T>C	XP_011538067.1:n.750+2T>C
XM_011539766.2:c.732+2T>C	XP_011538068.1:n.732+2T>C
XM_011539767.3:c.696+2T>C	XP_011538069.1:n.696+2T>C
XR_945732.3:n.719+2T>C
XR_945733.2:n.656+2T>C
NM_000043.6:c.651+2T>C MANE Select	NP_000034.1:n.651+2T>C
NM_001320619.2:c.569-1260T>C	NP_001307548.1:n.569-1260T>C
NM_152871.4:c.588+2T>C	NP_690610.1:n.588+2T>C
NM_152872.4:c.651+2T>C	NP_690611.1:n.651+2T>C
NR_028033.4:n.558+2T>C
NR_028034.4:n.420+2T>C
NR_028035.4:n.483+2T>C
NR_028036.4:n.621+2T>C
NR_135313.2:n.539-1260T>C
NR_135314.2:n.817+2T>C
NR_135315.2:n.570+2T>C