Canonical Allele Identifier: CA196224

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 3367
• ClinVar RCV Id: RCV000003534 ; RCV000166580 ; RCV000255586 ; RCV000781382 ; RCV003914800
• dbSNP Id: rs137852929
• gnomAD v4: 17-17215228-G-C
• MyVariant Identifiers: chr17:g.17118542G>C (hg19) ; chr17:g.17215228G>C (hg38)
• PubMed: PMID:12204536 ; PMID:15852235 ; PMID:18234728 ; PMID:19562744 ; PMID:23784378

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17215228G>C , CM000679.2:g.17215228G>C	GRCh38
NC_000017.10:g.17118542G>C , CM000679.1:g.17118542G>C	GRCh37
NC_000017.9:g.17059267G>C	NCBI36
NG_008001.2:g.26961C>G , LRG_325:g.26961C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1389C>G (FLCN) MANE Select	ENSP00000285071.4:p.Tyr463Ter
ENST00000285071.8:c.1389C>G (FLCN)	ENSP00000285071.4:p.Tyr463Ter
ENST00000427497.3:c.*223C>G	ENSP00000394249.3:n.*223C>G
ENST00000578209.5:c.562-2262G>C (MPRIP)
NM_144997.5:c.1389C>G , LRG_325t1:c.1389C>G (FLCN)	NP_659434.2:p.Tyr463Ter
XM_011523714.1:c.1443C>G (FLCN)	XP_011522016.1:p.Tyr481Ter
XM_011523715.1:c.1443C>G (FLCN)	XP_011522017.1:p.Tyr481Ter
XM_011523716.1:c.1443C>G (FLCN)	XP_011522018.1:p.Tyr481Ter
XM_011523717.1:c.1443C>G (FLCN)	XP_011522019.1:p.Tyr481Ter
XM_011523718.1:c.1443C>G (FLCN)	XP_011522020.1:p.Tyr481Ter
XM_011523719.1:c.1443C>G (FLCN)	XP_011522021.1:p.Tyr481Ter
XM_011523720.1:c.1167C>G (FLCN)	XP_011522022.1:p.Tyr389Ter
XM_011523721.1:c.1443C>G (FLCN)	XP_011522023.1:p.Tyr481Ter
XR_934007.1:n.2659C>G (FLCN)
NM_001353229.1:c.1443C>G (FLCN)	NP_001340158.1:p.Tyr481Ter
NM_001353230.1:c.1389C>G (FLCN)	NP_001340159.1:p.Tyr463Ter
NM_001353231.1:c.1389C>G (FLCN)	NP_001340160.1:p.Tyr463Ter
NM_144997.6:c.1389C>G (FLCN)	NP_659434.2:p.Tyr463Ter
XM_011523714.3:c.1443C>G (FLCN)	XP_011522016.1:p.Tyr481Ter
XM_011523718.3:c.1443C>G (FLCN)	XP_011522020.1:p.Tyr481Ter
XM_011523719.3:c.1443C>G (FLCN)	XP_011522021.1:p.Tyr481Ter
XM_011523721.3:c.1443C>G (FLCN)	XP_011522023.1:p.Tyr481Ter
XM_017024305.2:c.1443C>G (FLCN)	XP_016879794.1:p.Tyr481Ter
XM_017024308.1:c.1389C>G (FLCN)	XP_016879797.1:p.Tyr463Ter
XM_017024309.2:c.1167C>G (FLCN)	XP_016879798.1:p.Tyr389Ter
XM_024450635.1:c.1443C>G (FLCN)	XP_024306403.1:p.Tyr481Ter
XR_001752445.2:n.1823C>G (FLCN)
NM_144997.7:c.1389C>G (FLCN) MANE Select	NP_659434.2:p.Tyr463Ter
NM_001353229.2:c.1443C>G (FLCN)	NP_001340158.1:p.Tyr481Ter
NM_001353230.2:c.1389C>G (FLCN)	NP_001340159.1:p.Tyr463Ter
NM_001353231.2:c.1389C>G (FLCN)	NP_001340160.1:p.Tyr463Ter