Canonical Allele Identifier: CA257489
Gene: FMO3 HGNC NCBI
ClinVar RCV:
RCV000017709
ClinVar Variation:
16316
COSMIC:
COSM530575
dbSNP:
72549320
gnomAD v4:
chr1-171092752-G-A
Joint Max Group AF 0.00000803 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
MyVariant.info:
GRCh38 chr1:g.171092752G>A
GRCh37 chr1:g.171061893G>A
Revel Score:
ENST00000367755 (MANE Select) 0.893
ENST00000392085 0.893
ENST00000538429 0.893
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171092752G>A , CM000663.2:g.171092752G>A GRCh38
NC_000001.10:g.171061893G>A , CM000663.1:g.171061893G>A GRCh37
NC_000001.9:g.169328517G>A NCBI36
NG_012690.1:g.6876G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367755.9:c.94G>A MANE Select ENSP00000356729.4:p.Glu32Lys
ENST00000367755.8:c.94G>A ENSP00000356729.4:p.Glu32Lys
ENST00000472784.5:c.94G>A ENSP00000476963.1:p.Glu32Lys
ENST00000479749.1:c.94G>A ENSP00000477451.1:p.Glu32Lys
ENST00000530212.5:n.181G>A
ENST00000534514.1:n.177G>A
NM_001002294.2:c.94G>A NP_001002294.1:p.Glu32Lys
NM_006894.5:c.94G>A NP_008825.4:p.Glu32Lys
XM_005245044.1:c.94G>A XP_005245101.1:p.Glu32Lys
XM_011509345.1:c.-94G>A XP_011507647.1:n.-94G>A
XM_011509346.1:c.-94G>A XP_011507648.1:n.-94G>A
NM_001319173.1:c.-94G>A NP_001306102.1:n.-94G>A
NM_001319174.1:c.94G>A NP_001306103.1:p.Glu32Lys
XM_011509345.3:c.-94G>A XP_011507647.1:n.-94G>A
NM_001002294.3:c.94G>A MANE Select NP_001002294.1:p.Glu32Lys
NM_001319173.2:c.-94G>A NP_001306102.1:n.-94G>A
NM_001319174.2:c.94G>A NP_001306103.1:p.Glu32Lys
NM_006894.6:c.94G>A NP_008825.4:p.Glu32Lys
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