Canonical Allele Identifier: CA117374

Gene: FCN3

Linked Data

• ClinVar Variation Id: 5285
• ClinVar RCV Id: RCV000005603
• dbSNP Id: rs532781899
• ExAC: 1:27699670 AG / A
• gnomAD v2: 1-27699670-AG-A
• gnomAD v3: 1-27373179-AG-A
• gnomAD v4: 1-27373179-AG-A
• COSMIC: COSM1683743 ; COSM5713026
• MyVariant Identifiers: chr1:g.27699673del (hg19) ; chr1:g.27699671del (hg19) ; chr1:g.27373181del (hg38) ; chr1:g.27373180del (hg38)
• PubMed: PMID:19535802 ; PMID:20971976 ; PMID:22226667 ; PMID:25662573

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?