Canonical Allele Identifier: CA5593213

Gene: FAS

Linked Data

• ClinVar Variation Id: 1684733
• ClinVar RCV Id: RCV002247825
• dbSNP Id: rs764567970
• ExAC: 10:90773924 T / C
• gnomAD v2: 10-90773924-T-C
• MyVariant Identifiers: chr10:g.90773924T>C (hg19) ; chr10:g.89014167T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89014167T>C , CM000672.2:g.89014167T>C	GRCh38
NC_000010.10:g.90773924T>C , CM000672.1:g.90773924T>C	GRCh37
NC_000010.9:g.90763904T>C	NCBI36
NG_009089.2:g.28637T>C , LRG_134:g.28637T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.1034T>C
ENST00000355740.8:c.*48T>C	ENSP00000347979.3:n.*48T>C
ENST00000357339.7:c.662T>C	ENSP00000349896.2:p.Leu221Pro
ENST00000371857.8:n.2270T>C
ENST00000460510.6:c.8T>C	ENSP00000512812.1:p.Leu3Pro
ENST00000466081.6:n.2374T>C
ENST00000477270.6:c.770T>C	ENSP00000512813.1:p.Leu257Pro
ENST00000479522.6:c.*154T>C	ENSP00000424113.1:n.*154T>C
ENST00000484444.6:c.*166T>C	ENSP00000420975.1:n.*166T>C
ENST00000488877.6:c.616T>C	ENSP00000425159.1:n.616T>C
ENST00000492756.7:c.*154T>C	ENSP00000422453.1:n.*154T>C
ENST00000494799.6:c.8T>C	ENSP00000512834.1:p.Leu3Pro
ENST00000562983.3:c.8T>C	ENSP00000512845.1:p.Leu3Pro
ENST00000612663.6:c.*127T>C	ENSP00000477997.3:n.*127T>C
ENST00000640140.2:n.870T>C
ENST00000640250.2:n.224T>C
ENST00000640681.2:n.829T>C
ENST00000696723.1:n.4358T>C
ENST00000696741.1:n.2363T>C
ENST00000696742.1:n.2090T>C
ENST00000696743.1:n.3493T>C
ENST00000696744.1:n.764T>C
ENST00000696767.1:n.1059T>C
ENST00000696768.1:c.*48T>C	ENSP00000512859.1:n.*48T>C
ENST00000696769.1:n.2414T>C
ENST00000696771.1:c.8T>C	ENSP00000512860.1:p.Leu3Pro
ENST00000696772.1:n.2328T>C
ENST00000696773.1:n.2067T>C
ENST00000696774.1:n.5835T>C
ENST00000696776.1:c.818T>C	ENSP00000512861.1:p.Leu273Pro
ENST00000696777.1:n.2133T>C
ENST00000696778.1:n.1161T>C
ENST00000696779.1:c.332T>C	ENSP00000512862.1:p.Leu111Pro
ENST00000696780.1:c.755T>C	ENSP00000512863.1:p.Leu252Pro
ENST00000696781.1:c.470T>C	ENSP00000512864.1:p.Leu157Pro
ENST00000696782.1:c.*127T>C	ENSP00000512865.1:n.*127T>C
ENST00000696783.1:n.2593T>C
ENST00000696992.1:n.1842T>C
ENST00000696995.1:n.4254T>C
ENST00000696996.1:n.2167T>C
ENST00000696997.1:c.*355T>C	ENSP00000513028.1:n.*355T>C
ENST00000696998.1:n.1979T>C
ENST00000696999.1:c.8T>C	ENSP00000513029.1:p.Leu3Pro
ENST00000697035.1:c.*58T>C	ENSP00000513059.1:n.*58T>C
ENST00000697036.1:c.*141T>C	ENSP00000513060.1:n.*141T>C
ENST00000697037.1:n.760T>C
ENST00000697093.1:n.2961T>C
ENST00000697094.1:n.3308T>C
ENST00000697095.1:c.*1926T>C	ENSP00000513104.1:n.*1926T>C
ENST00000697096.1:n.1858T>C
ENST00000697097.1:c.8T>C	ENSP00000513105.1:p.Leu3Pro
ENST00000562983.2:n.911T>C
ENST00000690268.1:c.806T>C	ENSP00000509810.1:p.Leu269Pro
ENST00000355740.7:c.*51T>C	ENSP00000347979.3:n.*51T>C
ENST00000612663.5:c.*127T>C	ENSP00000477997.3:n.*127T>C
ENST00000640140.1:n.897T>C
ENST00000640250.1:n.224T>C
ENST00000640681.1:n.846T>C
ENST00000652046.1:c.725T>C MANE Select	ENSP00000498466.1:p.Leu242Pro
ENST00000313771.9:n.1034T>C
ENST00000352159.8:c.*42T>C	ENSP00000345601.4:n.*42T>C
ENST00000355279.2:c.700T>C	ENSP00000347426.2:n.700T>C
ENST00000355740.6:c.725T>C	ENSP00000347979.2:p.Leu242Pro
ENST00000357339.6:c.662T>C	ENSP00000349896.2:p.Leu221Pro
ENST00000479522.5:c.*154T>C	ENSP00000424113.1:n.*154T>C
ENST00000484444.5:c.*166T>C	ENSP00000420975.1:n.*166T>C
ENST00000488877.5:c.*166T>C	ENSP00000425159.1:n.*166T>C
ENST00000492756.5:c.553T>C	ENSP00000422453.1:n.553T>C
ENST00000494410.5:c.*83T>C	ENSP00000423755.1:n.*83T>C
ENST00000494799.5:n.632T>C
ENST00000612663.4:c.*72T>C	ENSP00000477997.2:n.*72T>C
ENST00000615406.4:c.725T>C	ENSP00000484575.1:p.Leu242Pro
ENST00000626542.2:c.723T>C	ENSP00000485876.1:p.Thr241=
NM_000043.4:c.725T>C , LRG_134t1:c.725T>C	NP_000034.1:p.Leu242Pro
NM_152871.2:c.662T>C	NP_690610.1:p.Leu221Pro
NM_152872.2:c.*37T>C	NP_690611.1:n.*37T>C
NR_028033.2:n.899T>C
NR_028034.2:n.761T>C
NR_028035.2:n.824T>C
NR_028036.2:n.962T>C
XM_006717819.2:c.806T>C	XP_006717882.1:p.Leu269Pro
XM_011539764.1:c.887T>C	XP_011538066.1:p.Leu296Pro
XM_011539765.1:c.824T>C	XP_011538067.1:p.Leu275Pro
XM_011539766.1:c.806T>C	XP_011538068.1:p.Leu269Pro
XM_011539767.1:c.770T>C	XP_011538069.1:p.Leu257Pro
XR_945732.1:n.793T>C
XR_945733.1:n.730T>C
NM_000043.5:c.725T>C	NP_000034.1:p.Leu242Pro
NM_001320619.1:c.*48T>C	NP_001307548.1:n.*48T>C
NM_152871.3:c.662T>C	NP_690610.1:p.Leu221Pro
NM_152872.3:c.*37T>C	NP_690611.1:n.*37T>C
NR_028033.3:n.871T>C
NR_028034.3:n.733T>C
NR_028035.3:n.796T>C
NR_028036.3:n.934T>C
NR_135313.1:n.851T>C
NR_135314.1:n.1034T>C
NR_135315.1:n.787T>C
XM_006717819.3:c.806T>C	XP_006717882.1:p.Leu269Pro
XM_011539764.2:c.887T>C	XP_011538066.1:p.Leu296Pro
XM_011539765.2:c.824T>C	XP_011538067.1:p.Leu275Pro
XM_011539766.2:c.806T>C	XP_011538068.1:p.Leu269Pro
XM_011539767.3:c.770T>C	XP_011538069.1:p.Leu257Pro
XR_945732.3:n.793T>C
XR_945733.2:n.730T>C
NM_000043.6:c.725T>C MANE Select	NP_000034.1:p.Leu242Pro
NM_001320619.2:c.*48T>C	NP_001307548.1:n.*48T>C
NM_152871.4:c.662T>C	NP_690610.1:p.Leu221Pro
NM_152872.4:c.*37T>C	NP_690611.1:n.*37T>C
NR_028033.4:n.632T>C
NR_028034.4:n.494T>C
NR_028035.4:n.557T>C
NR_028036.4:n.695T>C
NR_135313.2:n.612T>C
NR_135314.2:n.891T>C
NR_135315.2:n.644T>C