Canonical Allele Identifier: CA341395

Gene: FMO3

Linked Data

• ClinVar Variation Id: 16308
• ClinVar RCV Id: RCV000017701 ; RCV002223760
• dbSNP Id: rs72549326
• ExAC: 1:171076952 C / T
• gnomAD v2: 1-171076952-C-T
• gnomAD v3: 1-171107811-C-T
• gnomAD v4: 1-171107811-C-T
• MyVariant Identifiers: chr1:g.171076952C>T (hg19) ; chr1:g.171107811C>T (hg38)
• PubMed: PMID:9282831 ; PMID:9398858 ; PMID:9536088 ; PMID:11191884 ; PMID:16601883 ; PMID:20301282 ; PMID:25870212

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171107811C>T , CM000663.2:g.171107811C>T	GRCh38
NC_000001.10:g.171076952C>T , CM000663.1:g.171076952C>T	GRCh37
NC_000001.9:g.169343576C>T	NCBI36
NG_012690.1:g.21935C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367755.9:c.458C>T MANE Select	ENSP00000356729.4:p.Pro153Leu
ENST00000367755.8:c.458C>T	ENSP00000356729.4:p.Pro153Leu
ENST00000479749.1:c.458C>T	ENSP00000477451.1:p.Pro153Leu
NM_001002294.2:c.458C>T	NP_001002294.1:p.Pro153Leu
NM_006894.5:c.458C>T	NP_008825.4:p.Pro153Leu
XM_005245044.1:c.269C>T	XP_005245101.1:p.Pro90Leu
XM_011509345.1:c.398C>T	XP_011507647.1:p.Pro133Leu
XM_011509346.1:c.398C>T	XP_011507648.1:p.Pro133Leu
NM_001319173.1:c.398C>T	NP_001306102.1:p.Pro133Leu
NM_001319174.1:c.269C>T	NP_001306103.1:p.Pro90Leu
XM_011509345.3:c.398C>T	XP_011507647.1:p.Pro133Leu
XM_024454365.1:c.-90C>T	XP_024310133.1:n.-90C>T
NM_001002294.3:c.458C>T MANE Select	NP_001002294.1:p.Pro153Leu
NM_001319173.2:c.398C>T	NP_001306102.1:p.Pro133Leu
NM_001319174.2:c.269C>T	NP_001306103.1:p.Pro90Leu
NM_006894.6:c.458C>T	NP_008825.4:p.Pro153Leu