Canonical Allele Identifier: CA1240728

Gene: FMO3

Linked Data

• ClinVar Variation Id: 874972
• ClinVar RCV Id: RCV001098408
• dbSNP Id: rs2066532
• ExAC: 1:171083403 G / C
• gnomAD v2: 1-171083403-G-C
• gnomAD v3: 1-171114263-G-C
• gnomAD v4: 1-171114263-G-C
• COSMIC: COSM1747930
• MyVariant Identifiers: chr1:g.171083403G>C (hg19) ; chr1:g.171114263G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171114263G>C , CM000663.2:g.171114263G>C	GRCh38
NC_000001.10:g.171083403G>C , CM000663.1:g.171083403G>C	GRCh37
NC_000001.9:g.169350027G>C	NCBI36
NG_012690.1:g.28386G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367755.9:c.1084G>C MANE Select	ENSP00000356729.4:p.Glu362Gln
ENST00000367755.8:c.1084G>C	ENSP00000356729.4:p.Glu362Gln
NM_001002294.2:c.1084G>C	NP_001002294.1:p.Glu362Gln
NM_006894.5:c.1084G>C	NP_008825.4:p.Glu362Gln
XM_005245044.1:c.895G>C	XP_005245101.1:p.Glu299Gln
XM_011509345.1:c.1024G>C	XP_011507647.1:p.Glu342Gln
XM_011509346.1:c.1024G>C	XP_011507648.1:p.Glu342Gln
NM_001319173.1:c.1024G>C	NP_001306102.1:p.Glu342Gln
NM_001319174.1:c.895G>C	NP_001306103.1:p.Glu299Gln
XM_011509345.3:c.1024G>C	XP_011507647.1:p.Glu342Gln
XM_024454365.1:c.337G>C	XP_024310133.1:p.Glu113Gln
NM_001002294.3:c.1084G>C MANE Select	NP_001002294.1:p.Glu362Gln
NM_001319173.2:c.1024G>C	NP_001306102.1:p.Glu342Gln
NM_001319174.2:c.895G>C	NP_001306103.1:p.Glu299Gln
NM_006894.6:c.1084G>C	NP_008825.4:p.Glu362Gln