Canonical Allele Identifier: CA1247495
Gene: FASLG HGNC NCBI
ClinVar RCV:
RCV000275447
RCV001764258
ClinVar Variation:
293735
dbSNP:
56302117
gnomAD v2:
1:172628621 T / G
gnomAD v3:
1:172659481 T / G
gnomAD v4:
chr1-172659481-T-G
Joint Max Group AF 0.00458221 (EAS)
Genomes Max Group AF 0.00821847 (EAS)
Exomes Max Group AF 0.00389756 (EAS)
MyVariant.info:
GRCh38 chr1:g.172659481T>G
GRCh37 chr1:g.172628621T>G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.172659481T>G , CM000663.2:g.172659481T>G GRCh38
NC_000001.10:g.172628621T>G , CM000663.1:g.172628621T>G GRCh37
NC_000001.9:g.170895244T>G NCBI36
NG_007269.1:g.5437T>G , LRG_58:g.5437T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367721.3:c.280T>G MANE Select ENSP00000356694.2:p.Leu94Val
ENST00000340030.4:c.280T>G ENSP00000344739.3:p.Leu94Val
ENST00000367721.2:c.280T>G ENSP00000356694.2:p.Leu94Val
NM_000639.2:c.280T>G NP_000630.1:p.Leu94Val
NM_001302746.1:c.280T>G NP_001289675.1:p.Leu94Val
NM_000639.3:c.280T>G MANE Select NP_000630.1:p.Leu94Val
NM_001302746.2:c.280T>G NP_001289675.1:p.Leu94Val
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