Canonical Allele Identifier: CA377509814
Community Standard Title: NM_000043.6(FAS):c.789G>C (p.Lys263Asn)
Gene: FAS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.89014231G>C , CM000672.2:g.89014231G>C GRCh38
NC_000010.10:g.90773988G>C , CM000672.1:g.90773988G>C GRCh37
NC_000010.9:g.90763968G>C NCBI36
NG_009089.2:g.28701G>C , LRG_134:g.28701G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000043.6:c.789G>C MANE Select NP_000034.1:p.Lys263Asn
ENST00000652046.1:c.789G>C MANE Select ENSP00000498466.1:p.Lys263Asn
NM_000043.4:c.789G>C , LRG_134t1:c.789G>C NP_000034.1:p.Lys263Asn
NM_000043.5:c.789G>C NP_000034.1:p.Lys263Asn
NM_001320619.1:c.*112G>C NP_001307548.1:n.*112G>C
NM_001320619.2:c.*112G>C NP_001307548.1:n.*112G>C
NM_152871.2:c.726G>C NP_690610.1:p.Lys242Asn
NM_152871.3:c.726G>C NP_690610.1:p.Lys242Asn
NM_152871.4:c.726G>C NP_690610.1:p.Lys242Asn
NM_152872.2:c.*101G>C NP_690611.1:n.*101G>C
NM_152872.3:c.*101G>C NP_690611.1:n.*101G>C
NM_152872.4:c.*101G>C NP_690611.1:n.*101G>C
NR_028033.2:n.963G>C
NR_028033.3:n.935G>C
NR_028033.4:n.696G>C
NR_028034.2:n.825G>C
NR_028034.3:n.797G>C
NR_028034.4:n.558G>C
NR_028035.2:n.888G>C
NR_028035.3:n.860G>C
NR_028035.4:n.621G>C
NR_028036.2:n.1026G>C
NR_028036.3:n.998G>C
NR_028036.4:n.759G>C
NR_135313.1:n.915G>C
NR_135313.2:n.676G>C
NR_135314.1:n.1098G>C
NR_135314.2:n.955G>C
NR_135315.1:n.851G>C
NR_135315.2:n.708G>C
ENST00000313771.10:n.1098G>C
ENST00000352159.8:c.*106G>C ENSP00000345601.4:n.*106G>C
ENST00000355279.2:c.764G>C ENSP00000347426.2:n.764G>C
ENST00000355740.6:c.789G>C ENSP00000347979.2:p.Lys263Asn
ENST00000355740.7:c.*115G>C ENSP00000347979.3:n.*115G>C
ENST00000355740.8:c.*112G>C ENSP00000347979.3:n.*112G>C
ENST00000357339.6:c.726G>C ENSP00000349896.2:p.Lys242Asn
ENST00000357339.7:c.726G>C ENSP00000349896.2:p.Lys242Asn
ENST00000371857.8:n.2334G>C
ENST00000460510.6:c.72G>C ENSP00000512812.1:p.Lys24Asn
ENST00000466081.6:n.2438G>C
ENST00000477270.6:c.834G>C ENSP00000512813.1:p.Lys278Asn
ENST00000479522.5:c.*218G>C ENSP00000424113.1:n.*218G>C
ENST00000479522.6:c.*218G>C ENSP00000424113.1:n.*218G>C
ENST00000484444.5:c.*230G>C ENSP00000420975.1:n.*230G>C
ENST00000484444.6:c.*230G>C ENSP00000420975.1:n.*230G>C
ENST00000488877.5:c.*230G>C ENSP00000425159.1:n.*230G>C
ENST00000488877.6:c.680G>C ENSP00000425159.1:n.680G>C
ENST00000492756.5:c.617G>C ENSP00000422453.1:n.617G>C
ENST00000492756.7:c.*218G>C ENSP00000422453.1:n.*218G>C
ENST00000494410.5:c.*147G>C ENSP00000423755.1:n.*147G>C
ENST00000494799.6:c.72G>C ENSP00000512834.1:p.Lys24Asn
ENST00000562983.2:n.975G>C
ENST00000562983.3:c.72G>C ENSP00000512845.1:p.Lys24Asn
ENST00000612663.4:c.*136G>C ENSP00000477997.2:n.*136G>C
ENST00000612663.5:c.*191G>C ENSP00000477997.3:n.*191G>C
ENST00000612663.6:c.*191G>C ENSP00000477997.3:n.*191G>C
ENST00000640140.1:n.961G>C
ENST00000640140.2:n.934G>C
ENST00000640250.1:n.288G>C
ENST00000640250.2:n.288G>C
ENST00000640681.1:n.910G>C
ENST00000640681.2:n.893G>C
ENST00000690268.1:c.870G>C ENSP00000509810.1:p.Lys290Asn
ENST00000696723.1:n.4422G>C
ENST00000696741.1:n.2427G>C
ENST00000696742.1:n.2154G>C
ENST00000696743.1:n.3557G>C
ENST00000696744.1:n.828G>C
ENST00000696767.1:n.1123G>C
ENST00000696768.1:c.*112G>C ENSP00000512859.1:n.*112G>C
ENST00000696769.1:n.2478G>C
ENST00000696771.1:c.72G>C ENSP00000512860.1:p.Lys24Asn
ENST00000696772.1:n.2392G>C
ENST00000696773.1:n.2131G>C
ENST00000696774.1:n.5899G>C
ENST00000696776.1:c.882G>C ENSP00000512861.1:p.Lys294Asn
ENST00000696777.1:n.2197G>C
ENST00000696778.1:n.1225G>C
ENST00000696779.1:c.396G>C ENSP00000512862.1:p.Lys132Asn
ENST00000696780.1:c.819G>C ENSP00000512863.1:p.Lys273Asn
ENST00000696781.1:c.534G>C ENSP00000512864.1:p.Lys178Asn
ENST00000696782.1:c.*191G>C ENSP00000512865.1:n.*191G>C
ENST00000696783.1:n.2657G>C
ENST00000696992.1:n.1906G>C
ENST00000696995.1:n.4318G>C
ENST00000696996.1:n.2231G>C
ENST00000696997.1:c.*419G>C ENSP00000513028.1:n.*419G>C
ENST00000696998.1:n.2043G>C
ENST00000696999.1:c.72G>C ENSP00000513029.1:p.Lys24Asn
ENST00000697035.1:c.*122G>C ENSP00000513059.1:n.*122G>C
ENST00000697036.1:c.*205G>C ENSP00000513060.1:n.*205G>C
ENST00000697037.1:n.824G>C
ENST00000697093.1:n.3025G>C
ENST00000697094.1:n.3372G>C
ENST00000697095.1:c.*1990G>C ENSP00000513104.1:n.*1990G>C
ENST00000697096.1:n.1922G>C
ENST00000697097.1:c.72G>C ENSP00000513105.1:p.Lys24Asn
XM_006717819.2:c.870G>C XP_006717882.1:p.Lys290Asn
XM_006717819.3:c.870G>C XP_006717882.1:p.Lys290Asn
XM_011539764.1:c.951G>C XP_011538066.1:p.Lys317Asn
XM_011539764.2:c.951G>C XP_011538066.1:p.Lys317Asn
XM_011539765.1:c.888G>C XP_011538067.1:p.Lys296Asn
XM_011539765.2:c.888G>C XP_011538067.1:p.Lys296Asn
XM_011539766.1:c.870G>C XP_011538068.1:p.Lys290Asn
XM_011539766.2:c.870G>C XP_011538068.1:p.Lys290Asn
XM_011539767.1:c.834G>C XP_011538069.1:p.Lys278Asn
XM_011539767.3:c.834G>C XP_011538069.1:p.Lys278Asn
XR_945732.1:n.857G>C
XR_945732.3:n.857G>C
XR_945733.1:n.794G>C
XR_945733.2:n.794G>C