Canonical Allele Identifier: CA159631

Gene: FAS

Linked Data

• ClinVar Variation Id: 134372
• ClinVar RCV Id: RCV001705893
• dbSNP Id: rs3218614
• ExAC: 10:90768676 C / T
• gnomAD v2: 10-90768676-C-T
• gnomAD v3: 10-89008919-C-T
• gnomAD v4: 10-89008919-C-T
• MyVariant Identifiers: chr10:g.90768676C>T (hg19) ; chr10:g.89008919C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.89008919C>T , CM000672.2:g.89008919C>T	GRCh38
NC_000010.10:g.90768676C>T , CM000672.1:g.90768676C>T	GRCh37
NC_000010.9:g.90758656C>T	NCBI36
NG_009089.2:g.23389C>T , LRG_134:g.23389C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313771.10:n.674C>T
ENST00000355740.8:c.365C>T	ENSP00000347979.3:p.Thr122Ile
ENST00000357339.7:c.365C>T	ENSP00000349896.2:p.Thr122Ile
ENST00000371857.8:n.575C>T
ENST00000460510.6:c.-353C>T	ENSP00000512812.1:n.-353C>T
ENST00000466081.6:n.503+1082C>T
ENST00000477270.6:c.410C>T	ENSP00000512813.1:p.Thr137Ile
ENST00000479522.6:c.197-1620C>T	ENSP00000424113.1:n.197-1620C>T
ENST00000484444.6:c.197-1620C>T	ENSP00000420975.1:n.197-1620C>T
ENST00000488877.6:c.334+1082C>T	ENSP00000425159.1:n.334+1082C>T
ENST00000492756.7:c.334+1082C>T	ENSP00000422453.1:n.334+1082C>T
ENST00000494799.6:c.-274-1620C>T	ENSP00000512834.1:n.-274-1620C>T
ENST00000562983.3:c.-353C>T	ENSP00000512845.1:n.-353C>T
ENST00000612663.6:c.365C>T	ENSP00000477997.3:p.Thr122Ile
ENST00000640140.2:n.510C>T
ENST00000640681.2:n.469C>T
ENST00000696723.1:n.3998C>T
ENST00000696741.1:n.668C>T
ENST00000696742.1:n.547C>T
ENST00000696743.1:n.537C>T
ENST00000696744.1:n.404C>T
ENST00000696767.1:n.547C>T
ENST00000696768.1:c.365C>T	ENSP00000512859.1:p.Thr122Ile
ENST00000696769.1:n.719C>T
ENST00000696770.1:n.1599C>T
ENST00000696771.1:c.-290C>T	ENSP00000512860.1:n.-290C>T
ENST00000696772.1:n.531C>T
ENST00000696773.1:n.524C>T
ENST00000696774.1:n.587C>T
ENST00000696775.1:n.640C>T
ENST00000696776.1:c.458C>T	ENSP00000512861.1:p.Thr153Ile
ENST00000696777.1:n.516+1082C>T
ENST00000696778.1:n.547C>T
ENST00000696779.1:c.197-1620C>T	ENSP00000512862.1:n.197-1620C>T
ENST00000696780.1:c.458C>T	ENSP00000512863.1:p.Thr153Ile
ENST00000696781.1:c.334+1082C>T	ENSP00000512864.1:n.334+1082C>T
ENST00000696782.1:c.365C>T	ENSP00000512865.1:p.Thr122Ile
ENST00000696992.1:n.1482C>T
ENST00000696995.1:n.547C>T
ENST00000696996.1:n.546C>T
ENST00000696997.1:c.365C>T	ENSP00000513028.1:p.Thr122Ile
ENST00000696998.1:n.363-1620C>T
ENST00000696999.1:c.-212+1082C>T	ENSP00000513029.1:n.-212+1082C>T
ENST00000697035.1:c.365C>T	ENSP00000513059.1:p.Thr122Ile
ENST00000697036.1:c.334+1082C>T	ENSP00000513060.1:n.334+1082C>T
ENST00000697037.1:n.400C>T
ENST00000697093.1:n.589C>T
ENST00000697094.1:n.504C>T
ENST00000697095.1:c.*25C>T	ENSP00000513104.1:n.*25C>T
ENST00000697096.1:n.421C>T
ENST00000697097.1:c.-353C>T	ENSP00000513105.1:n.-353C>T
ENST00000562983.2:n.551C>T
ENST00000690268.1:c.446C>T	ENSP00000509810.1:p.Thr149Ile
ENST00000355740.7:c.365C>T	ENSP00000347979.3:p.Thr122Ile
ENST00000612663.5:c.365C>T	ENSP00000477997.3:p.Thr122Ile
ENST00000640140.1:n.537C>T
ENST00000640681.1:n.486C>T
ENST00000652046.1:c.365C>T MANE Select	ENSP00000498466.1:p.Thr122Ile
ENST00000313771.9:n.674C>T
ENST00000352159.8:c.365C>T	ENSP00000345601.4:p.Thr122Ile
ENST00000355279.2:c.365C>T	ENSP00000347426.2:p.Thr122Ile
ENST00000355740.6:c.365C>T	ENSP00000347979.2:p.Thr122Ile
ENST00000357339.6:c.365C>T	ENSP00000349896.2:p.Thr122Ile
ENST00000371857.7:n.531C>T
ENST00000460510.5:n.732C>T
ENST00000466081.5:n.503+1082C>T
ENST00000477270.5:n.528C>T
ENST00000479522.5:c.197-1620C>T	ENSP00000424113.1:n.197-1620C>T
ENST00000484444.5:c.197-1620C>T	ENSP00000420975.1:n.197-1620C>T
ENST00000487314.1:n.514C>T
ENST00000488877.5:c.334+1082C>T	ENSP00000425159.1:n.334+1082C>T
ENST00000492756.5:c.334+1082C>T	ENSP00000422453.1:n.334+1082C>T
ENST00000494410.5:c.334+1082C>T	ENSP00000423755.1:n.334+1082C>T
ENST00000494799.5:n.351-1620C>T
ENST00000612663.4:c.365C>T	ENSP00000477997.2:p.Thr122Ile
ENST00000615406.4:c.365C>T	ENSP00000484575.1:p.Thr122Ile
ENST00000626542.2:c.365C>T	ENSP00000485876.1:p.Thr122Ile
NM_000043.4:c.365C>T , LRG_134t1:c.365C>T	NP_000034.1:p.Thr122Ile
NM_152871.2:c.365C>T	NP_690610.1:p.Thr122Ile
NM_152872.2:c.365C>T	NP_690611.1:p.Thr122Ile
NR_028033.2:n.680+1082C>T
NR_028034.2:n.543-1620C>T
NR_028035.2:n.543-1620C>T
NR_028036.2:n.680+1082C>T
XM_006717819.2:c.446C>T	XP_006717882.1:p.Thr149Ile
XM_011539764.1:c.527C>T	XP_011538066.1:p.Thr176Ile
XM_011539765.1:c.527C>T	XP_011538067.1:p.Thr176Ile
XM_011539766.1:c.446C>T	XP_011538068.1:p.Thr149Ile
XM_011539767.1:c.410C>T	XP_011538069.1:p.Thr137Ile
XR_945732.1:n.511+1082C>T
XR_945733.1:n.511+1082C>T
NM_000043.5:c.365C>T	NP_000034.1:p.Thr122Ile
NM_001320619.1:c.365C>T	NP_001307548.1:p.Thr122Ile
NM_152871.3:c.365C>T	NP_690610.1:p.Thr122Ile
NM_152872.3:c.365C>T	NP_690611.1:p.Thr122Ile
NR_028033.3:n.652+1082C>T
NR_028034.3:n.515-1620C>T
NR_028035.3:n.515-1620C>T
NR_028036.3:n.652+1082C>T
NR_135313.1:n.652+1082C>T
NR_135314.1:n.674C>T
NR_135315.1:n.506-1620C>T
XM_006717819.3:c.446C>T	XP_006717882.1:p.Thr149Ile
XM_011539764.2:c.527C>T	XP_011538066.1:p.Thr176Ile
XM_011539765.2:c.527C>T	XP_011538067.1:p.Thr176Ile
XM_011539766.2:c.446C>T	XP_011538068.1:p.Thr149Ile
XM_011539767.3:c.410C>T	XP_011538069.1:p.Thr137Ile
XR_945732.3:n.511+1082C>T
XR_945733.2:n.511+1082C>T
NM_000043.6:c.365C>T MANE Select	NP_000034.1:p.Thr122Ile
NM_001320619.2:c.365C>T	NP_001307548.1:p.Thr122Ile
NM_152871.4:c.365C>T	NP_690610.1:p.Thr122Ile
NM_152872.4:c.365C>T	NP_690611.1:p.Thr122Ile
NR_028033.4:n.413+1082C>T
NR_028034.4:n.276-1620C>T
NR_028035.4:n.276-1620C>T
NR_028036.4:n.413+1082C>T
NR_135313.2:n.413+1082C>T
NR_135314.2:n.531C>T
NR_135315.2:n.363-1620C>T