Canonical Allele Identifier: CA257486

Gene: FMO3

Linked Data

• ClinVar Variation Id: 16312
• ClinVar RCV Id: RCV000017705
• dbSNP Id: rs72549330
• gnomAD v2: 1-171083259-G-T
• gnomAD v4: 1-171114119-G-T
• MyVariant Identifiers: chr1:g.171083259G>T (hg19) ; chr1:g.171114119G>T (hg38)
• PubMed: PMID:10479479

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171114119G>T , CM000663.2:g.171114119G>T	GRCh38
NC_000001.10:g.171083259G>T , CM000663.1:g.171083259G>T	GRCh37
NC_000001.9:g.169349883G>T	NCBI36
NG_012690.1:g.28242G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367755.9:c.940G>T MANE Select	ENSP00000356729.4:p.Glu314Ter
ENST00000367755.8:c.940G>T	ENSP00000356729.4:p.Glu314Ter
NM_001002294.2:c.940G>T	NP_001002294.1:p.Glu314Ter
NM_006894.5:c.940G>T	NP_008825.4:p.Glu314Ter
XM_005245044.1:c.751G>T	XP_005245101.1:p.Glu251Ter
XM_011509345.1:c.880G>T	XP_011507647.1:p.Glu294Ter
XM_011509346.1:c.880G>T	XP_011507648.1:p.Glu294Ter
NM_001319173.1:c.880G>T	NP_001306102.1:p.Glu294Ter
NM_001319174.1:c.751G>T	NP_001306103.1:p.Glu251Ter
XM_011509345.3:c.880G>T	XP_011507647.1:p.Glu294Ter
XM_024454365.1:c.193G>T	XP_024310133.1:p.Glu65Ter
NM_001002294.3:c.940G>T MANE Select	NP_001002294.1:p.Glu314Ter
NM_001319173.2:c.880G>T	NP_001306102.1:p.Glu294Ter
NM_001319174.2:c.751G>T	NP_001306103.1:p.Glu251Ter
NM_006894.6:c.940G>T	NP_008825.4:p.Glu314Ter