Canonical Allele Identifier: CA118446

Gene: FAAH

Linked Data

• ClinVar Variation Id: 6724
• ClinVar RCV Id: RCV000007116 ; RCV002496290 ; RCV003974803
• dbSNP Id: rs324420
• ExAC: 1:46870761 C / A
• gnomAD v2: 1-46870761-C-A
• gnomAD v3: 1-46405089-C-A
• gnomAD v4: 1-46405089-C-A
• MyVariant Identifiers: chr1:g.46870761C>A (hg19) ; chr1:g.46405089C>A (hg38)
• PubMed: PMID:12060782 ; PMID:15254019 ; PMID:16972078 ; PMID:23556448

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46405089C>A , CM000663.2:g.46405089C>A	GRCh38
NC_000001.10:g.46870761C>A , CM000663.1:g.46870761C>A	GRCh37
NC_000001.9:g.46643348C>A	NCBI36
NG_012195.1:g.15823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243167.9:c.385C>A MANE Select	ENSP00000243167.8:p.Pro129Thr
ENST00000243167.8:c.385C>A	ENSP00000243167.8:p.Pro129Thr
ENST00000468718.5:n.405C>A
ENST00000493735.5:n.363C>A
NM_001441.2:c.385C>A	NP_001432.2:p.Pro129Thr
NM_001441.3:c.385C>A MANE Select	NP_001432.2:p.Pro129Thr