Canonical Allele Identifier: CA1240488

Gene: FMO3

Linked Data

• ClinVar Variation Id: 293686
• ClinVar RCV Id: RCV000396110 ; RCV003698755
• dbSNP Id: rs141235954
• ExAC: 1:171073018 C / T
• gnomAD v2: 1-171073018-C-T
• gnomAD v3: 1-171103877-C-T
• gnomAD v4: 1-171103877-C-T
• MyVariant Identifiers: chr1:g.171073018C>T (hg19) ; chr1:g.171103877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171103877C>T , CM000663.2:g.171103877C>T	GRCh38
NC_000001.10:g.171073018C>T , CM000663.1:g.171073018C>T	GRCh37
NC_000001.9:g.169339642C>T	NCBI36
NG_012690.1:g.18001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367755.9:c.225C>T MANE Select	ENSP00000356729.4:p.Pro75=
ENST00000367755.8:c.225C>T	ENSP00000356729.4:p.Pro75=
ENST00000472784.5:c.*205C>T	ENSP00000476963.1:n.*205C>T
ENST00000478457.1:n.538C>T
ENST00000479749.1:c.225C>T	ENSP00000477451.1:p.Pro75=
NM_001002294.2:c.225C>T	NP_001002294.1:p.Pro75=
NM_006894.5:c.225C>T	NP_008825.4:p.Pro75=
XM_005245044.1:c.133-3798C>T	XP_005245101.1:n.133-3798C>T
XM_011509345.1:c.165C>T	XP_011507647.1:p.Pro55=
XM_011509346.1:c.165C>T	XP_011507648.1:p.Pro55=
NM_001319173.1:c.165C>T	NP_001306102.1:p.Pro55=
NM_001319174.1:c.133-3798C>T	NP_001306103.1:n.133-3798C>T
XM_011509345.3:c.165C>T	XP_011507647.1:p.Pro55=
NM_001002294.3:c.225C>T MANE Select	NP_001002294.1:p.Pro75=
NM_001319173.2:c.165C>T	NP_001306102.1:p.Pro55=
NM_001319174.2:c.133-3798C>T	NP_001306103.1:n.133-3798C>T
NM_006894.6:c.225C>T	NP_008825.4:p.Pro75=