Canonical Allele Identifier: CA1240575
Gene: FMO3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.171108154T>G
GRCh37 chr1:g.171077295T>G
Revel Score:
ENST00000367755 (MANE Select) 0.687
ENST00000392085 0.687
ENST00000542847 0.687
ENST00000538429 0.687
gnomAD v2:
1:171077295 T / G
gnomAD v3:
1:171108154 T / G
gnomAD v4:
chr1-171108154-T-G
Joint Max Group AF 0.00018819 (EAS)
Genomes Max Group AF 0.00015677 (EAS)
Exomes Max Group AF 0.000155 (EAS)
ClinVar RCV:
RCV004389692
ClinVar Variation:
3095894
dbSNP:
769983049
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171108154T>G , CM000663.2:g.171108154T>G GRCh38
NC_000001.10:g.171077295T>G , CM000663.1:g.171077295T>G GRCh37
NC_000001.9:g.169343919T>G NCBI36
NG_012690.1:g.22278T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367755.9:c.560T>G MANE Select ENSP00000356729.4:p.Val187Gly
ENST00000367755.8:c.560T>G ENSP00000356729.4:p.Val187Gly
ENST00000479749.1:c.506T>G ENSP00000477451.1:p.Val169Gly
NM_001002294.2:c.560T>G NP_001002294.1:p.Val187Gly
NM_006894.5:c.560T>G NP_008825.4:p.Val187Gly
XM_005245044.1:c.371T>G XP_005245101.1:p.Val124Gly
XM_011509345.1:c.500T>G XP_011507647.1:p.Val167Gly
XM_011509346.1:c.500T>G XP_011507648.1:p.Val167Gly
NM_001319173.1:c.500T>G NP_001306102.1:p.Val167Gly
NM_001319174.1:c.371T>G NP_001306103.1:p.Val124Gly
XM_011509345.3:c.500T>G XP_011507647.1:p.Val167Gly
XM_024454365.1:c.13T>G XP_024310133.1:p.Ser5Ala
NM_001002294.3:c.560T>G MANE Select NP_001002294.1:p.Val187Gly
NM_001319173.2:c.500T>G NP_001306102.1:p.Val167Gly
NM_001319174.2:c.371T>G NP_001306103.1:p.Val124Gly
NM_006894.6:c.560T>G NP_008825.4:p.Val187Gly
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