Canonical Allele Identifier: CA038589
Gene: FMO3 HGNC NCBI
COSMIC:
COSM5618417 (not active)
MyVariant.info:
GRCh38 chr1:g.171107825G>A
GRCh37 chr1:g.171076966G>A
Revel Score:
ENST00000367755 (MANE Select) 0.103
ENST00000392085 0.103
ENST00000542847 0.103
ENST00000538429 0.103
gnomAD v2:
1:171076966 G / A
gnomAD v3:
1:171107825 G / A
gnomAD v4:
chr1-171107825-G-A
Joint Max Group AF 0.456854 (AFR)
Genomes Max Group AF 0.45355155 (AFR)
Exomes Max Group AF 0.45719329 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171107825G>A , CM000663.2:g.171107825G>A GRCh38
NC_000001.10:g.171076966G>A , CM000663.1:g.171076966G>A GRCh37
NC_000001.9:g.169343590G>A NCBI36
NG_012690.1:g.21949G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367755.9:c.472G>A MANE Select ENSP00000356729.4:p.Glu158Lys
ENST00000367755.8:c.472G>A ENSP00000356729.4:p.Glu158Lys
ENST00000479749.1:c.467+5G>A ENSP00000477451.1:n.467+5G>A
NM_001002294.2:c.472G>A NP_001002294.1:p.Glu158Lys
NM_006894.5:c.472G>A NP_008825.4:p.Glu158Lys
XM_005245044.1:c.283G>A XP_005245101.1:p.Glu95Lys
XM_011509345.1:c.412G>A XP_011507647.1:p.Glu138Lys
XM_011509346.1:c.412G>A XP_011507648.1:p.Glu138Lys
NM_001319173.1:c.412G>A NP_001306102.1:p.Glu138Lys
NM_001319174.1:c.283G>A NP_001306103.1:p.Glu95Lys
XM_011509345.3:c.412G>A XP_011507647.1:p.Glu138Lys
XM_024454365.1:c.-76G>A XP_024310133.1:n.-76G>A
NM_001002294.3:c.472G>A MANE Select NP_001002294.1:p.Glu158Lys
NM_001319173.2:c.412G>A NP_001306102.1:p.Glu138Lys
NM_001319174.2:c.283G>A NP_001306103.1:p.Glu95Lys
NM_006894.6:c.472G>A NP_008825.4:p.Glu158Lys
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