Canonical Allele Identifier: CA836208
Gene: FAAH HGNC NCBI
COSMIC:
COSM3746989 (not active)
MyVariant.info:
GRCh38 chr1:g.46406314T>C
GRCh37 chr1:g.46871986T>C
gnomAD v2:
1:46871986 T / C
gnomAD v3:
1:46406314 T / C
gnomAD v4:
chr1-46406314-T-C
Joint Max Group AF 0.99098126 (EAS)
Genomes Max Group AF 0.97492924 (EAS)
Exomes Max Group AF 0.99062964 (EAS)
dbSNP:
324419
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46406314T>C , CM000663.2:g.46406314T>C GRCh38
NC_000001.10:g.46871986T>C , CM000663.1:g.46871986T>C GRCh37
NC_000001.9:g.46644573T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000243167.9:c.897T>C MANE Select ENSP00000243167.8:p.Cys299=
ENST00000243167.8:c.897T>C ENSP00000243167.8:p.Cys299=
ENST00000484697.5:c.72+520T>C
ENST00000489366.2:n.112T>C
ENST00000493735.5:n.1118T>C
NM_001441.3:c.897T>C MANE Select NP_001432.2:p.Cys299=
Search 100 bp 5'
Search 100 bp 3'