Canonical Allele Identifier: CA257488
Gene: FMO3 HGNC NCBI
ClinVar RCV:
RCV000017707
RCV003556037
ClinVar Variation:
16314
COSMIC:
COSM3478251
dbSNP:
72549332
gnomAD v2:
1:171086285 G / A
gnomAD v3:
1:171117145 G / A
gnomAD v4:
chr1-171117145-G-A
Joint Max Group AF 0.00022774 (SAS)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.0002402 (SAS)
MyVariant.info:
GRCh38 chr1:g.171117145G>A
GRCh37 chr1:g.171086285G>A
Revel Score:
ENST00000367755 (MANE Select) 0.260
ENST00000392085 0.260
ENST00000542847 0.260
ENST00000538429 0.260
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171117145G>A , CM000663.2:g.171117145G>A GRCh38
NC_000001.10:g.171086285G>A , CM000663.1:g.171086285G>A GRCh37
NC_000001.9:g.169352909G>A NCBI36
NG_012690.1:g.31268G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367755.9:c.1302G>A MANE Select ENSP00000356729.4:p.Met434Ile
ENST00000367755.8:c.1302G>A ENSP00000356729.4:p.Met434Ile
NM_001002294.2:c.1302G>A NP_001002294.1:p.Met434Ile
NM_006894.5:c.1302G>A NP_008825.4:p.Met434Ile
XM_005245044.1:c.1113G>A XP_005245101.1:p.Met371Ile
XM_011509345.1:c.1242G>A XP_011507647.1:p.Met414Ile
XM_011509346.1:c.1242G>A XP_011507648.1:p.Met414Ile
NM_001319173.1:c.1242G>A NP_001306102.1:p.Met414Ile
NM_001319174.1:c.1113G>A NP_001306103.1:p.Met371Ile
XM_011509345.3:c.1242G>A XP_011507647.1:p.Met414Ile
XM_024454365.1:c.555G>A XP_024310133.1:p.Met185Ile
NM_001002294.3:c.1302G>A MANE Select NP_001002294.1:p.Met434Ile
NM_001319173.2:c.1242G>A NP_001306102.1:p.Met414Ile
NM_001319174.2:c.1113G>A NP_001306103.1:p.Met371Ile
NM_006894.6:c.1302G>A NP_008825.4:p.Met434Ile
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