Canonical Allele Identifier: CA038272
Gene: FMO3 HGNC NCBI
ClinVar RCV:
RCV000254132
RCV000290538
RCV001642531
ClinVar Variation:
38395
COSMIC:
COSM3750592
dbSNP:
2266780
gnomAD v2:
1:171083242 A / G
gnomAD v3:
1:171114102 A / G
gnomAD v4:
chr1-171114102-A-G
Joint Max Group AF 0.19693625 (NFE)
Genomes Max Group AF 0.19398967 (NFE)
Exomes Max Group AF 0.19696632 (NFE)
MyVariant.info:
GRCh38 chr1:g.171114102A>G
GRCh37 chr1:g.171083242A>G
Revel Score:
ENST00000367755 (MANE Select) 0.216
ENST00000392085 0.216
ENST00000542847 0.216
ENST00000538429 0.216
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171114102A>G , CM000663.2:g.171114102A>G GRCh38
NC_000001.10:g.171083242A>G , CM000663.1:g.171083242A>G GRCh37
NC_000001.9:g.169349866A>G NCBI36
NG_012690.1:g.28225A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367755.9:c.923A>G MANE Select ENSP00000356729.4:p.Glu308Gly
ENST00000367755.8:c.923A>G ENSP00000356729.4:p.Glu308Gly
NM_001002294.2:c.923A>G NP_001002294.1:p.Glu308Gly
NM_006894.5:c.923A>G NP_008825.4:p.Glu308Gly
XM_005245044.1:c.734A>G XP_005245101.1:p.Glu245Gly
XM_011509345.1:c.863A>G XP_011507647.1:p.Glu288Gly
XM_011509346.1:c.863A>G XP_011507648.1:p.Glu288Gly
NM_001319173.1:c.863A>G NP_001306102.1:p.Glu288Gly
NM_001319174.1:c.734A>G NP_001306103.1:p.Glu245Gly
XM_011509345.3:c.863A>G XP_011507647.1:p.Glu288Gly
XM_024454365.1:c.176A>G XP_024310133.1:p.Glu59Gly
NM_001002294.3:c.923A>G MANE Select NP_001002294.1:p.Glu308Gly
NM_001319173.2:c.863A>G NP_001306102.1:p.Glu288Gly
NM_001319174.2:c.734A>G NP_001306103.1:p.Glu245Gly
NM_006894.6:c.923A>G NP_008825.4:p.Glu308Gly
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