Canonical Allele Identifier: CA038272

Gene: FMO3

Linked Data

• ClinVar Variation Id: 38395
• ClinVar RCV Id: RCV000254132 ; RCV000290538 ; RCV001642531
• dbSNP Id: rs2266780
• ExAC: 1:171083242 A / G
• gnomAD v2: 1-171083242-A-G
• gnomAD v3: 1-171114102-A-G
• gnomAD v4: 1-171114102-A-G
• MyVariant Identifiers: chr1:g.171083242A>G (hg19) ; chr1:g.171114102A>G (hg38)
• PubMed: PMID:10479479 ; PMID:22409263

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171114102A>G , CM000663.2:g.171114102A>G	GRCh38
NC_000001.10:g.171083242A>G , CM000663.1:g.171083242A>G	GRCh37
NC_000001.9:g.169349866A>G	NCBI36
NG_012690.1:g.28225A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367755.9:c.923A>G MANE Select	ENSP00000356729.4:p.Glu308Gly
ENST00000367755.8:c.923A>G	ENSP00000356729.4:p.Glu308Gly
NM_001002294.2:c.923A>G	NP_001002294.1:p.Glu308Gly
NM_006894.5:c.923A>G	NP_008825.4:p.Glu308Gly
XM_005245044.1:c.734A>G	XP_005245101.1:p.Glu245Gly
XM_011509345.1:c.863A>G	XP_011507647.1:p.Glu288Gly
XM_011509346.1:c.863A>G	XP_011507648.1:p.Glu288Gly
NM_001319173.1:c.863A>G	NP_001306102.1:p.Glu288Gly
NM_001319174.1:c.734A>G	NP_001306103.1:p.Glu245Gly
XM_011509345.3:c.863A>G	XP_011507647.1:p.Glu288Gly
XM_024454365.1:c.176A>G	XP_024310133.1:p.Glu59Gly
NM_001002294.3:c.923A>G MANE Select	NP_001002294.1:p.Glu308Gly
NM_001319173.2:c.863A>G	NP_001306102.1:p.Glu288Gly
NM_001319174.2:c.734A>G	NP_001306103.1:p.Glu245Gly
NM_006894.6:c.923A>G	NP_008825.4:p.Glu308Gly