Canonical Allele Identifier: CA126607

Gene: FAS

Linked Data

• ClinVar Variation Id: 16516
• ClinVar RCV Id: RCV000017980
• dbSNP Id: rs121913086
• MyVariant Identifiers: chr10:g.90773977G>T (hg19) ; chr10:g.89014220G>T (hg38)
• PubMed: PMID:4165068 ; PMID:8929361

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014220G>T , CM000672.2:g.89014220G>T	GRCh38
NC_000010.10:g.90773977G>T , CM000672.1:g.90773977G>T	GRCh37
NC_000010.9:g.90763957G>T	NCBI36
NG_009089.2:g.28690G>T , LRG_134:g.28690G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313771.10:n.1087G>T
ENST00000355740.8:c.*101G>T	ENSP00000347979.3:n.*101G>T
ENST00000357339.7:c.715G>T	ENSP00000349896.2:p.Asp239Tyr
ENST00000371857.8:n.2323G>T
ENST00000460510.6:c.61G>T	ENSP00000512812.1:p.Asp21Tyr
ENST00000466081.6:n.2427G>T
ENST00000477270.6:c.823G>T	ENSP00000512813.1:p.Asp275Tyr
ENST00000479522.6:c.*207G>T	ENSP00000424113.1:n.*207G>T
ENST00000484444.6:c.*219G>T	ENSP00000420975.1:n.*219G>T
ENST00000488877.6:c.669G>T	ENSP00000425159.1:n.669G>T
ENST00000492756.7:c.*207G>T	ENSP00000422453.1:n.*207G>T
ENST00000494799.6:c.61G>T	ENSP00000512834.1:p.Asp21Tyr
ENST00000562983.3:c.61G>T	ENSP00000512845.1:p.Asp21Tyr
ENST00000612663.6:c.*180G>T	ENSP00000477997.3:n.*180G>T
ENST00000640140.2:n.923G>T
ENST00000640250.2:n.277G>T
ENST00000640681.2:n.882G>T
ENST00000696723.1:n.4411G>T
ENST00000696741.1:n.2416G>T
ENST00000696742.1:n.2143G>T
ENST00000696743.1:n.3546G>T
ENST00000696744.1:n.817G>T
ENST00000696767.1:n.1112G>T
ENST00000696768.1:c.*101G>T	ENSP00000512859.1:n.*101G>T
ENST00000696769.1:n.2467G>T
ENST00000696771.1:c.61G>T	ENSP00000512860.1:p.Asp21Tyr
ENST00000696772.1:n.2381G>T
ENST00000696773.1:n.2120G>T
ENST00000696774.1:n.5888G>T
ENST00000696776.1:c.871G>T	ENSP00000512861.1:p.Asp291Tyr
ENST00000696777.1:n.2186G>T
ENST00000696778.1:n.1214G>T
ENST00000696779.1:c.385G>T	ENSP00000512862.1:p.Asp129Tyr
ENST00000696780.1:c.808G>T	ENSP00000512863.1:p.Asp270Tyr
ENST00000696781.1:c.523G>T	ENSP00000512864.1:p.Asp175Tyr
ENST00000696782.1:c.*180G>T	ENSP00000512865.1:n.*180G>T
ENST00000696783.1:n.2646G>T
ENST00000696992.1:n.1895G>T
ENST00000696995.1:n.4307G>T
ENST00000696996.1:n.2220G>T
ENST00000696997.1:c.*408G>T	ENSP00000513028.1:n.*408G>T
ENST00000696998.1:n.2032G>T
ENST00000696999.1:c.61G>T	ENSP00000513029.1:p.Asp21Tyr
ENST00000697035.1:c.*111G>T	ENSP00000513059.1:n.*111G>T
ENST00000697036.1:c.*194G>T	ENSP00000513060.1:n.*194G>T
ENST00000697037.1:n.813G>T
ENST00000697093.1:n.3014G>T
ENST00000697094.1:n.3361G>T
ENST00000697095.1:c.*1979G>T	ENSP00000513104.1:n.*1979G>T
ENST00000697096.1:n.1911G>T
ENST00000697097.1:c.61G>T	ENSP00000513105.1:p.Asp21Tyr
ENST00000562983.2:n.964G>T
ENST00000690268.1:c.859G>T	ENSP00000509810.1:p.Asp287Tyr
ENST00000355740.7:c.*104G>T	ENSP00000347979.3:n.*104G>T
ENST00000612663.5:c.*180G>T	ENSP00000477997.3:n.*180G>T
ENST00000640140.1:n.950G>T
ENST00000640250.1:n.277G>T
ENST00000640681.1:n.899G>T
ENST00000652046.1:c.778G>T MANE Select	ENSP00000498466.1:p.Asp260Tyr
ENST00000352159.8:c.*95G>T	ENSP00000345601.4:n.*95G>T
ENST00000355279.2:c.753G>T	ENSP00000347426.2:n.753G>T
ENST00000355740.6:c.778G>T	ENSP00000347979.2:p.Asp260Tyr
ENST00000357339.6:c.715G>T	ENSP00000349896.2:p.Asp239Tyr
ENST00000479522.5:c.*207G>T	ENSP00000424113.1:n.*207G>T
ENST00000484444.5:c.*219G>T	ENSP00000420975.1:n.*219G>T
ENST00000488877.5:c.*219G>T	ENSP00000425159.1:n.*219G>T
ENST00000492756.5:c.606G>T	ENSP00000422453.1:n.606G>T
ENST00000494410.5:c.*136G>T	ENSP00000423755.1:n.*136G>T
ENST00000612663.4:c.*125G>T	ENSP00000477997.2:n.*125G>T
NM_000043.4:c.778G>T , LRG_134t1:c.778G>T	NP_000034.1:p.Asp260Tyr
NM_152871.2:c.715G>T	NP_690610.1:p.Asp239Tyr
NM_152872.2:c.*90G>T	NP_690611.1:n.*90G>T
NR_028033.2:n.952G>T
NR_028034.2:n.814G>T
NR_028035.2:n.877G>T
NR_028036.2:n.1015G>T
XM_006717819.2:c.859G>T	XP_006717882.1:p.Asp287Tyr
XM_011539764.1:c.940G>T	XP_011538066.1:p.Asp314Tyr
XM_011539765.1:c.877G>T	XP_011538067.1:p.Asp293Tyr
XM_011539766.1:c.859G>T	XP_011538068.1:p.Asp287Tyr
XM_011539767.1:c.823G>T	XP_011538069.1:p.Asp275Tyr
XR_945732.1:n.846G>T
XR_945733.1:n.783G>T
NM_000043.5:c.778G>T	NP_000034.1:p.Asp260Tyr
NM_001320619.1:c.*101G>T	NP_001307548.1:n.*101G>T
NM_152871.3:c.715G>T	NP_690610.1:p.Asp239Tyr
NM_152872.3:c.*90G>T	NP_690611.1:n.*90G>T
NR_028033.3:n.924G>T
NR_028034.3:n.786G>T
NR_028035.3:n.849G>T
NR_028036.3:n.987G>T
NR_135313.1:n.904G>T
NR_135314.1:n.1087G>T
NR_135315.1:n.840G>T
XM_006717819.3:c.859G>T	XP_006717882.1:p.Asp287Tyr
XM_011539764.2:c.940G>T	XP_011538066.1:p.Asp314Tyr
XM_011539765.2:c.877G>T	XP_011538067.1:p.Asp293Tyr
XM_011539766.2:c.859G>T	XP_011538068.1:p.Asp287Tyr
XM_011539767.3:c.823G>T	XP_011538069.1:p.Asp275Tyr
XR_945732.3:n.846G>T
XR_945733.2:n.783G>T
NM_000043.6:c.778G>T MANE Select	NP_000034.1:p.Asp260Tyr
NM_001320619.2:c.*101G>T	NP_001307548.1:n.*101G>T
NM_152871.4:c.715G>T	NP_690610.1:p.Asp239Tyr
NM_152872.4:c.*90G>T	NP_690611.1:n.*90G>T
NR_028033.4:n.685G>T
NR_028034.4:n.547G>T
NR_028035.4:n.610G>T
NR_028036.4:n.748G>T
NR_135313.2:n.665G>T
NR_135314.2:n.944G>T
NR_135315.2:n.697G>T