Canonical Allele Identifier: CA1240770
Gene: FMO3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.171116228A>G
GRCh37 chr1:g.171085368A>G
Revel Score:
ENST00000367755 (MANE Select) 0.065
ENST00000392085 0.065
ENST00000542847 0.065
ENST00000538429 0.065
gnomAD v2:
1:171085368 A / G
gnomAD v3:
1:171116228 A / G
gnomAD v4:
chr1-171116228-A-G
Joint Max Group AF 0.00013583 (NFE)
Genomes Max Group AF 0.00010174 (NFE)
Exomes Max Group AF 0.00013385 (NFE)
ClinVar RCV:
RCV000307703
RCV000911384
ClinVar Variation:
293695
dbSNP:
141117096
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171116228A>G , CM000663.2:g.171116228A>G GRCh38
NC_000001.10:g.171085368A>G , CM000663.1:g.171085368A>G GRCh37
NC_000001.9:g.169351992A>G NCBI36
NG_012690.1:g.30351A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367755.9:c.1204A>G MANE Select ENSP00000356729.4:p.Met402Val
ENST00000367755.8:c.1204A>G ENSP00000356729.4:p.Met402Val
NM_001002294.2:c.1204A>G NP_001002294.1:p.Met402Val
NM_006894.5:c.1204A>G NP_008825.4:p.Met402Val
XM_005245044.1:c.1015A>G XP_005245101.1:p.Met339Val
XM_011509345.1:c.1144A>G XP_011507647.1:p.Met382Val
XM_011509346.1:c.1144A>G XP_011507648.1:p.Met382Val
NM_001319173.1:c.1144A>G NP_001306102.1:p.Met382Val
NM_001319174.1:c.1015A>G NP_001306103.1:p.Met339Val
XM_011509345.3:c.1144A>G XP_011507647.1:p.Met382Val
XM_024454365.1:c.457A>G XP_024310133.1:p.Met153Val
NM_001002294.3:c.1204A>G MANE Select NP_001002294.1:p.Met402Val
NM_001319173.2:c.1144A>G NP_001306102.1:p.Met382Val
NM_001319174.2:c.1015A>G NP_001306103.1:p.Met339Val
NM_006894.6:c.1204A>G NP_008825.4:p.Met402Val
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