Canonical Allele Identifier: CA342117
Gene: FMO3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.171114258T>C
GRCh37 chr1:g.171083398T>C
Revel Score:
ENST00000367755 (MANE Select) 0.030
ENST00000392085 0.030
ENST00000542847 0.030
ENST00000538429 0.030
gnomAD v2:
1:171083398 T / C
gnomAD v3:
1:171114258 T / C
gnomAD v4:
chr1-171114258-T-C
Joint Max Group AF 0.00471935 (AFR)
Genomes Max Group AF 0.00423993 (AFR)
Exomes Max Group AF 0.00493226 (AFR)
ClinVar RCV:
RCV000020652
RCV002513145
ClinVar Variation:
21464
dbSNP:
28363581
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171114258T>C , CM000663.2:g.171114258T>C GRCh38
NC_000001.10:g.171083398T>C , CM000663.1:g.171083398T>C GRCh37
NC_000001.9:g.169350022T>C NCBI36
NG_012690.1:g.28381T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367755.9:c.1079T>C MANE Select ENSP00000356729.4:p.Leu360Pro
ENST00000367755.8:c.1079T>C ENSP00000356729.4:p.Leu360Pro
NM_001002294.2:c.1079T>C NP_001002294.1:p.Leu360Pro
NM_006894.5:c.1079T>C NP_008825.4:p.Leu360Pro
XM_005245044.1:c.890T>C XP_005245101.1:p.Leu297Pro
XM_011509345.1:c.1019T>C XP_011507647.1:p.Leu340Pro
XM_011509346.1:c.1019T>C XP_011507648.1:p.Leu340Pro
NM_001319173.1:c.1019T>C NP_001306102.1:p.Leu340Pro
NM_001319174.1:c.890T>C NP_001306103.1:p.Leu297Pro
XM_011509345.3:c.1019T>C XP_011507647.1:p.Leu340Pro
XM_024454365.1:c.332T>C XP_024310133.1:p.Leu111Pro
NM_001002294.3:c.1079T>C MANE Select NP_001002294.1:p.Leu360Pro
NM_001319173.2:c.1019T>C NP_001306102.1:p.Leu340Pro
NM_001319174.2:c.890T>C NP_001306103.1:p.Leu297Pro
NM_006894.6:c.1079T>C NP_008825.4:p.Leu360Pro
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