Canonical Allele Identifier: CA726581987

Gene: FLCN MPRIP

Linked Data

• dbSNP Id: rs1165704176
• gnomAD v4: 17-17213344-C-G
• MyVariant Identifiers: chr17:g.17116658C>G (hg19) ; chr17:g.17213344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213344C>G , CM000679.2:g.17213344C>G	GRCh38
NC_000017.10:g.17116658C>G , CM000679.1:g.17116658C>G	GRCh37
NC_000017.9:g.17057383C>G	NCBI36
NG_008001.2:g.28845G>C , LRG_325:g.28845G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.*311G>C (FLCN) MANE Select	ENSP00000285071.4:n.*311G>C
ENST00000285071.8:c.*311G>C (FLCN)	ENSP00000285071.4:n.*311G>C
ENST00000427497.3:c.*372+1641G>C	ENSP00000394249.3:n.*372+1641G>C
ENST00000578209.5:c.562-4146C>G (MPRIP)
NM_144997.5:c.*311G>C , LRG_325t1:c.*311G>C (FLCN)	NP_659434.2:n.*311G>C
XM_011523714.1:c.*311G>C (FLCN)	XP_011522016.1:n.*311G>C
XM_011523715.1:c.*311G>C (FLCN)	XP_011522017.1:n.*311G>C
XM_011523716.1:c.*311G>C (FLCN)	XP_011522018.1:n.*311G>C
XM_011523717.1:c.*311G>C (FLCN)	XP_011522019.1:n.*311G>C
XM_011523718.1:c.*311G>C (FLCN)	XP_011522020.1:n.*311G>C
XM_011523719.1:c.1592+1641G>C (FLCN)	XP_011522021.1:n.1592+1641G>C
XM_011523720.1:c.*311G>C (FLCN)	XP_011522022.1:n.*311G>C
XM_011523721.1:c.*311G>C (FLCN)	XP_011522023.1:n.*311G>C
NM_001353229.1:c.*311G>C (FLCN)	NP_001340158.1:n.*311G>C
NM_001353230.1:c.*311G>C (FLCN)	NP_001340159.1:n.*311G>C
NM_001353231.1:c.*311G>C (FLCN)	NP_001340160.1:n.*311G>C
NM_144997.6:c.*311G>C (FLCN)	NP_659434.2:n.*311G>C
XM_011523719.3:c.1592+1641G>C (FLCN)	XP_011522021.1:n.1592+1641G>C
XM_017024309.2:c.*311G>C (FLCN)	XP_016879798.1:n.*311G>C
NM_144997.7:c.*311G>C (FLCN) MANE Select	NP_659434.2:n.*311G>C
NM_001353229.2:c.*311G>C (FLCN)	NP_001340158.1:n.*311G>C
NM_001353230.2:c.*311G>C (FLCN)	NP_001340159.1:n.*311G>C
NM_001353231.2:c.*311G>C (FLCN)	NP_001340160.1:n.*311G>C