Canonical Allele Identifier: CA16620338
Gene: FLCN HGNC NCBI
MPRIP HGNC NCBI

Linked Data

ClinVar Variation Id: 419280
ClinVar RCV Id: RCV000479064
dbSNP Id: rs1064793766
MyVariant Identifiers: chr17:g.17119692A>C (hg19) chr17:g.17216378A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17216378A>C , CM000679.2:g.17216378A>C GRCh38
NC_000017.10:g.17119692A>C , CM000679.1:g.17119692A>C GRCh37
NC_000017.9:g.17060417A>C NCBI36
NG_008001.2:g.25811T>G , LRG_325:g.25811T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.1300+2T>G (FLCN) MANE Select ENSP00000285071.4:n.1300+2T>G
ENST00000285071.8:c.1300+2T>G (FLCN) ENSP00000285071.4:n.1300+2T>G
ENST00000427497.3:c.*134+2T>G ENSP00000394249.3:n.*134+2T>G
ENST00000578209.5:c.562-1112A>C (MPRIP)
NM_144997.5:c.1300+2T>G , LRG_325t1:c.1300+2T>G (FLCN) NP_659434.2:n.1300+2T>G
XM_011523714.1:c.1354+2T>G (FLCN) XP_011522016.1:n.1354+2T>G
XM_011523715.1:c.1354+2T>G (FLCN) XP_011522017.1:n.1354+2T>G
XM_011523716.1:c.1354+2T>G (FLCN) XP_011522018.1:n.1354+2T>G
XM_011523717.1:c.1354+2T>G (FLCN) XP_011522019.1:n.1354+2T>G
XM_011523718.1:c.1354+2T>G (FLCN) XP_011522020.1:n.1354+2T>G
XM_011523719.1:c.1354+2T>G (FLCN) XP_011522021.1:n.1354+2T>G
XM_011523720.1:c.1078+2T>G (FLCN) XP_011522022.1:n.1078+2T>G
XM_011523721.1:c.1354+2T>G (FLCN) XP_011522023.1:n.1354+2T>G
XR_934007.1:n.2570+691T>G (FLCN)
NM_001353229.1:c.1354+2T>G (FLCN) NP_001340158.1:n.1354+2T>G
NM_001353230.1:c.1300+2T>G (FLCN) NP_001340159.1:n.1300+2T>G
NM_001353231.1:c.1300+2T>G (FLCN) NP_001340160.1:n.1300+2T>G
NM_144997.6:c.1300+2T>G (FLCN) NP_659434.2:n.1300+2T>G
XM_011523714.3:c.1354+2T>G (FLCN) XP_011522016.1:n.1354+2T>G
XM_011523718.3:c.1354+2T>G (FLCN) XP_011522020.1:n.1354+2T>G
XM_011523719.3:c.1354+2T>G (FLCN) XP_011522021.1:n.1354+2T>G
XM_011523721.3:c.1354+2T>G (FLCN) XP_011522023.1:n.1354+2T>G
XM_017024305.2:c.1354+2T>G (FLCN) XP_016879794.1:n.1354+2T>G
XM_017024308.1:c.1300+2T>G (FLCN) XP_016879797.1:n.1300+2T>G
XM_017024309.2:c.1078+2T>G (FLCN) XP_016879798.1:n.1078+2T>G
XM_024450635.1:c.1354+2T>G (FLCN) XP_024306403.1:n.1354+2T>G
XR_001752445.2:n.1734+691T>G (FLCN)
NM_144997.7:c.1300+2T>G (FLCN) MANE Select NP_659434.2:n.1300+2T>G
NM_001353229.2:c.1354+2T>G (FLCN) NP_001340158.1:n.1354+2T>G
NM_001353230.2:c.1300+2T>G (FLCN) NP_001340159.1:n.1300+2T>G
NM_001353231.2:c.1300+2T>G (FLCN) NP_001340160.1:n.1300+2T>G
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