Canonical Allele Identifier: CA257480
Gene: FMO3 HGNC NCBI
COSMIC:
COSM4416130 (not active)
MyVariant.info:
GRCh38 chr1:g.171110939G>A
GRCh37 chr1:g.171080080G>A
Revel Score:
ENST00000367755 (MANE Select) 0.049
ENST00000392085 0.049
ENST00000542847 0.049
ENST00000538429 0.049
gnomAD v2:
1:171080080 G / A
gnomAD v3:
1:171110939 G / A
gnomAD v4:
chr1-171110939-G-A
Joint Max Group AF 0.18165422 (EAS)
Genomes Max Group AF 0.17591886 (EAS)
Exomes Max Group AF 0.18135606 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171110939G>A , CM000663.2:g.171110939G>A GRCh38
NC_000001.10:g.171080080G>A , CM000663.1:g.171080080G>A GRCh37
NC_000001.9:g.169346704G>A NCBI36
NG_012690.1:g.25063G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367755.9:c.769G>A MANE Select ENSP00000356729.4:p.Val257Met
ENST00000367755.8:c.769G>A ENSP00000356729.4:p.Val257Met
NM_001002294.2:c.769G>A NP_001002294.1:p.Val257Met
NM_006894.5:c.769G>A NP_008825.4:p.Val257Met
XM_005245044.1:c.580G>A XP_005245101.1:p.Val194Met
XM_011509345.1:c.709G>A XP_011507647.1:p.Val237Met
XM_011509346.1:c.709G>A XP_011507648.1:p.Val237Met
NM_001319173.1:c.709G>A NP_001306102.1:p.Val237Met
NM_001319174.1:c.580G>A NP_001306103.1:p.Val194Met
XM_011509345.3:c.709G>A XP_011507647.1:p.Val237Met
XM_024454365.1:c.80+2718G>A XP_024310133.1:n.80+2718G>A
NM_001002294.3:c.769G>A MANE Select NP_001002294.1:p.Val257Met
NM_001319173.2:c.709G>A NP_001306102.1:p.Val237Met
NM_001319174.2:c.580G>A NP_001306103.1:p.Val194Met
NM_006894.6:c.769G>A NP_008825.4:p.Val257Met
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