Canonical Allele Identifier: CA1247590
Gene: FASLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2598915
ClinVar RCV Id: RCV004345298
dbSNP Id: rs760032192
ExAC: 1:172634872 C / A
gnomAD v2: 1-172634872-C-A
gnomAD v3: 1-172665732-C-A
gnomAD v4: 1-172665732-C-A
MyVariant Identifiers: chr1:g.172634872C>A (hg19) chr1:g.172665732C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.172665732C>A , CM000663.2:g.172665732C>A GRCh38
NC_000001.10:g.172634872C>A , CM000663.1:g.172634872C>A GRCh37
NC_000001.9:g.170901495C>A NCBI36
NG_007269.1:g.11688C>A , LRG_58:g.11688C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367721.3:c.562C>A MANE Select ENSP00000356694.2:p.Leu188Met
ENST00000340030.4:c.*132C>A ENSP00000344739.3:n.*132C>A
ENST00000367721.2:c.562C>A ENSP00000356694.2:p.Leu188Met
NM_000639.2:c.562C>A NP_000630.1:p.Leu188Met
NM_001302746.1:c.*132C>A NP_001289675.1:n.*132C>A
NM_000639.3:c.562C>A MANE Select NP_000630.1:p.Leu188Met
NM_001302746.2:c.*132C>A NP_001289675.1:n.*132C>A
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