Canonical Allele Identifier: CA117374
Gene: FCN3 HGNC NCBI
gnomAD v2:
1:27699670 AG / A
gnomAD v3:
1:27373179 AG / A
gnomAD v4:
chr1-27373179-AG-A
Joint Max Group AF 0.03799659 (MID)
Genomes Max Group AF 0.02527936 (SAS)
Exomes Max Group AF 0.03828946 (MID)
ClinVar RCV:
RCV000005603
ClinVar Variation:
5285
dbSNP:
532781899
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.27373182del , CM000663.2:g.27373182del GRCh38
NC_000001.10:g.27699673del , CM000663.1:g.27699673del GRCh37
NC_000001.9:g.27572260del NCBI36
NG_016279.1:g.6645del , LRG_171:g.6645del

Transcript Alleles

HGVS Amino-acid Change
ENST00000699962.1:n.348del
ENST00000699963.1:c.349del ENSP00000514719.1:p.Leu117SerfsTer?
ENST00000270879.9:c.349del MANE Select ENSP00000270879.4:p.Leu117SerfsTer?
ENST00000270879.8:c.349del ENSP00000270879.4:p.Leu117SerfsTer?
ENST00000354982.2:c.316del ENSP00000347077.2:p.Leu106SerfsTer?
ENST00000498393.1:n.499del
NM_003665.2:c.349del , LRG_171t1:c.349del NP_003656.2:p.Leu117SerfsTer?
NM_173452.1:c.316del NP_775628.1:p.Leu106SerfsTer?
XM_011542339.1:c.349del XP_011540641.1:p.Leu117SerfsTer?
NM_003665.3:c.349del NP_003656.2:p.Leu117SerfsTer?
NM_173452.2:c.316del NP_775628.1:p.Leu106SerfsTer?
NM_003665.4:c.349del MANE Select NP_003656.2:p.Leu117SerfsTer?
NM_173452.3:c.316del NP_775628.1:p.Leu106SerfsTer?
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