Canonical Allele Identifier: CA1240738
Gene: FMO3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.171114339G>A
GRCh37 chr1:g.171083479G>A
Revel Score:
ENST00000367755 (MANE Select) 0.532
ENST00000392085 0.532
ENST00000542847 0.532
ENST00000538429 0.532
gnomAD v2:
1:171083479 G / A
gnomAD v3:
1:171114339 G / A
gnomAD v4:
chr1-171114339-G-A
Joint Max Group AF 0.0002409 (EAS)
Genomes Max Group AF 0.00026316 (EAS)
Exomes Max Group AF 0.00019299 (EAS)
ClinVar RCV:
RCV000489148
ClinVar Variation:
427174
dbSNP:
72549331
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171114339G>A , CM000663.2:g.171114339G>A GRCh38
NC_000001.10:g.171083479G>A , CM000663.1:g.171083479G>A GRCh37
NC_000001.9:g.169350103G>A NCBI36
NG_012690.1:g.28462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367755.9:c.1160G>A MANE Select ENSP00000356729.4:p.Arg387His
ENST00000367755.8:c.1160G>A ENSP00000356729.4:p.Arg387His
NM_001002294.2:c.1160G>A NP_001002294.1:p.Arg387His
NM_006894.5:c.1160G>A NP_008825.4:p.Arg387His
XM_005245044.1:c.971G>A XP_005245101.1:p.Arg324His
XM_011509345.1:c.1100G>A XP_011507647.1:p.Arg367His
XM_011509346.1:c.1100G>A XP_011507648.1:p.Arg367His
NM_001319173.1:c.1100G>A NP_001306102.1:p.Arg367His
NM_001319174.1:c.971G>A NP_001306103.1:p.Arg324His
XM_011509345.3:c.1100G>A XP_011507647.1:p.Arg367His
XM_024454365.1:c.413G>A XP_024310133.1:p.Arg138His
NM_001002294.3:c.1160G>A MANE Select NP_001002294.1:p.Arg387His
NM_001319173.2:c.1100G>A NP_001306102.1:p.Arg367His
NM_001319174.2:c.971G>A NP_001306103.1:p.Arg324His
NM_006894.6:c.1160G>A NP_008825.4:p.Arg387His
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