Canonical Allele Identifier: CA1240614

Gene: FMO3

Linked Data

• ClinVar Variation Id: 293690
• ClinVar RCV Id: RCV000374206 ; RCV000900317
• dbSNP Id: rs369396459
• ExAC: 1:171079933 T / C
• gnomAD v2: 1-171079933-T-C
• gnomAD v3: 1-171110792-T-C
• gnomAD v4: 1-171110792-T-C
• MyVariant Identifiers: chr1:g.171079933T>C (hg19) ; chr1:g.171110792T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171110792T>C , CM000663.2:g.171110792T>C	GRCh38
NC_000001.10:g.171079933T>C , CM000663.1:g.171079933T>C	GRCh37
NC_000001.9:g.169346557T>C	NCBI36
NG_012690.1:g.24916T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367755.9:c.628-6T>C MANE Select	ENSP00000356729.4:n.628-6T>C
ENST00000367755.8:c.628-6T>C	ENSP00000356729.4:n.628-6T>C
ENST00000479749.1:c.574-6T>C	ENSP00000477451.1:n.574-6T>C
NM_001002294.2:c.628-6T>C	NP_001002294.1:n.628-6T>C
NM_006894.5:c.628-6T>C	NP_008825.4:n.628-6T>C
XM_005245044.1:c.439-6T>C	XP_005245101.1:n.439-6T>C
XM_011509345.1:c.568-6T>C	XP_011507647.1:n.568-6T>C
XM_011509346.1:c.568-6T>C	XP_011507648.1:n.568-6T>C
NM_001319173.1:c.568-6T>C	NP_001306102.1:n.568-6T>C
NM_001319174.1:c.439-6T>C	NP_001306103.1:n.439-6T>C
XM_011509345.3:c.568-6T>C	XP_011507647.1:n.568-6T>C
XM_024454365.1:c.80+2571T>C	XP_024310133.1:n.80+2571T>C
NM_001002294.3:c.628-6T>C MANE Select	NP_001002294.1:n.628-6T>C
NM_001319173.2:c.568-6T>C	NP_001306102.1:n.568-6T>C
NM_001319174.2:c.439-6T>C	NP_001306103.1:n.439-6T>C
NM_006894.6:c.628-6T>C	NP_008825.4:n.628-6T>C