Canonical Allele Identifier: CA1240538
Gene: FMO3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.171107795G>A
GRCh37 chr1:g.171076936G>A
Revel Score:
ENST00000367755 (MANE Select) 0.909
ENST00000392085 0.909
ENST00000542847 0.909
ENST00000538429 0.909
gnomAD v2:
1:171076936 G / A
gnomAD v3:
1:171107795 G / A
gnomAD v4:
chr1-171107795-G-A
Joint Max Group AF 0.00002555 (NFE)
Genomes Max Group AF 0.00003763 (NFE)
Exomes Max Group AF 0.00002201 (NFE)
ClinVar RCV:
RCV000681473
ClinVar Variation:
562009
dbSNP:
72549325
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171107795G>A , CM000663.2:g.171107795G>A GRCh38
NC_000001.10:g.171076936G>A , CM000663.1:g.171076936G>A GRCh37
NC_000001.9:g.169343560G>A NCBI36
NG_012690.1:g.21919G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367755.9:c.442G>A MANE Select ENSP00000356729.4:p.Gly148Arg
ENST00000367755.8:c.442G>A ENSP00000356729.4:p.Gly148Arg
ENST00000479749.1:c.442G>A ENSP00000477451.1:p.Gly148Arg
NM_001002294.2:c.442G>A NP_001002294.1:p.Gly148Arg
NM_006894.5:c.442G>A NP_008825.4:p.Gly148Arg
XM_005245044.1:c.253G>A XP_005245101.1:p.Gly85Arg
XM_011509345.1:c.382G>A XP_011507647.1:p.Gly128Arg
XM_011509346.1:c.382G>A XP_011507648.1:p.Gly128Arg
NM_001319173.1:c.382G>A NP_001306102.1:p.Gly128Arg
NM_001319174.1:c.253G>A NP_001306103.1:p.Gly85Arg
XM_011509345.3:c.382G>A XP_011507647.1:p.Gly128Arg
XM_024454365.1:c.-106G>A XP_024310133.1:n.-106G>A
NM_001002294.3:c.442G>A MANE Select NP_001002294.1:p.Gly148Arg
NM_001319173.2:c.382G>A NP_001306102.1:p.Gly128Arg
NM_001319174.2:c.253G>A NP_001306103.1:p.Gly85Arg
NM_006894.6:c.442G>A NP_008825.4:p.Gly148Arg
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