Canonical Allele Identifier: CA398534235

Gene: FLCN

Linked Data

• dbSNP Id: rs2144972353
• gnomAD v4: 17-17223953-A-G
• MyVariant Identifiers: chr17:g.17127267A>G (hg19) ; chr17:g.17223953A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17223953A>G , CM000679.2:g.17223953A>G	GRCh38
NC_000017.10:g.17127267A>G , CM000679.1:g.17127267A>G	GRCh37
NC_000017.9:g.17067992A>G	NCBI36
NG_008001.2:g.18236T>C , LRG_325:g.18236T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.587T>C MANE Select	ENSP00000285071.4:p.Ile196Thr
ENST00000285071.8:c.587T>C	ENSP00000285071.4:p.Ile196Thr
ENST00000389169.9:c.587T>C	ENSP00000373821.5:p.Ile196Thr
ENST00000417064.1:c.428T>C	ENSP00000410410.1:p.Ile143Thr
ENST00000427497.3:c.148+4037T>C	ENSP00000394249.3:n.148+4037T>C
ENST00000480316.1:n.553T>C
NM_144606.5:c.587T>C	NP_653207.1:p.Ile196Thr
NM_144997.5:c.587T>C , LRG_325t1:c.587T>C	NP_659434.2:p.Ile196Thr
XM_011523714.1:c.641T>C	XP_011522016.1:p.Ile214Thr
XM_011523715.1:c.641T>C	XP_011522017.1:p.Ile214Thr
XM_011523716.1:c.641T>C	XP_011522018.1:p.Ile214Thr
XM_011523717.1:c.641T>C	XP_011522019.1:p.Ile214Thr
XM_011523718.1:c.641T>C	XP_011522020.1:p.Ile214Thr
XM_011523719.1:c.641T>C	XP_011522021.1:p.Ile214Thr
XM_011523720.1:c.397-1292T>C	XP_011522022.1:n.397-1292T>C
XM_011523721.1:c.641T>C	XP_011522023.1:p.Ile214Thr
XR_934007.1:n.1981T>C
NM_001353229.1:c.641T>C	NP_001340158.1:p.Ile214Thr
NM_001353230.1:c.587T>C	NP_001340159.1:p.Ile196Thr
NM_001353231.1:c.587T>C	NP_001340160.1:p.Ile196Thr
NM_144606.6:c.587T>C	NP_653207.1:p.Ile196Thr
NM_144997.6:c.587T>C	NP_659434.2:p.Ile196Thr
XM_011523714.3:c.641T>C	XP_011522016.1:p.Ile214Thr
XM_011523718.3:c.641T>C	XP_011522020.1:p.Ile214Thr
XM_011523719.3:c.641T>C	XP_011522021.1:p.Ile214Thr
XM_011523721.3:c.641T>C	XP_011522023.1:p.Ile214Thr
XM_017024305.2:c.641T>C	XP_016879794.1:p.Ile214Thr
XM_017024308.1:c.587T>C	XP_016879797.1:p.Ile196Thr
XM_017024309.2:c.397-1292T>C	XP_016879798.1:n.397-1292T>C
XM_024450635.1:c.641T>C	XP_024306403.1:p.Ile214Thr
XR_001752445.2:n.1145T>C
NM_144997.7:c.587T>C MANE Select	NP_659434.2:p.Ile196Thr
NM_001353229.2:c.641T>C	NP_001340158.1:p.Ile214Thr
NM_001353230.2:c.587T>C	NP_001340159.1:p.Ile196Thr
NM_001353231.2:c.587T>C	NP_001340160.1:p.Ile196Thr
NM_144606.7:c.587T>C	NP_653207.1:p.Ile196Thr