Canonical Allele Identifier: CA625015238

Gene: FLCN

Linked Data

• dbSNP Id: rs576673978
• gnomAD v2: 17-17127201-C-T
• gnomAD v4: 17-17223887-C-T
• MyVariant Identifiers: chr17:g.17127201C>T (hg19) ; chr17:g.17223887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17223887C>T , CM000679.2:g.17223887C>T	GRCh38
NC_000017.10:g.17127201C>T , CM000679.1:g.17127201C>T	GRCh37
NC_000017.9:g.17067926C>T	NCBI36
NG_008001.2:g.18302G>A , LRG_325:g.18302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.618+35G>A MANE Select	ENSP00000285071.4:n.618+35G>A
ENST00000285071.8:c.618+35G>A	ENSP00000285071.4:n.618+35G>A
ENST00000389169.9:c.618+35G>A	ENSP00000373821.5:n.618+35G>A
ENST00000427497.3:c.148+4103G>A	ENSP00000394249.3:n.148+4103G>A
ENST00000480316.1:n.584+35G>A
NM_144606.5:c.618+35G>A	NP_653207.1:n.618+35G>A
NM_144997.5:c.618+35G>A , LRG_325t1:c.618+35G>A	NP_659434.2:n.618+35G>A
XM_011523714.1:c.672+35G>A	XP_011522016.1:n.672+35G>A
XM_011523715.1:c.672+35G>A	XP_011522017.1:n.672+35G>A
XM_011523716.1:c.672+35G>A	XP_011522018.1:n.672+35G>A
XM_011523717.1:c.672+35G>A	XP_011522019.1:n.672+35G>A
XM_011523718.1:c.672+35G>A	XP_011522020.1:n.672+35G>A
XM_011523719.1:c.672+35G>A	XP_011522021.1:n.672+35G>A
XM_011523720.1:c.397-1226G>A	XP_011522022.1:n.397-1226G>A
XM_011523721.1:c.672+35G>A	XP_011522023.1:n.672+35G>A
XR_934007.1:n.2012+35G>A
NM_001353229.1:c.672+35G>A	NP_001340158.1:n.672+35G>A
NM_001353230.1:c.618+35G>A	NP_001340159.1:n.618+35G>A
NM_001353231.1:c.618+35G>A	NP_001340160.1:n.618+35G>A
NM_144606.6:c.618+35G>A	NP_653207.1:n.618+35G>A
NM_144997.6:c.618+35G>A	NP_659434.2:n.618+35G>A
XM_011523714.3:c.672+35G>A	XP_011522016.1:n.672+35G>A
XM_011523718.3:c.672+35G>A	XP_011522020.1:n.672+35G>A
XM_011523719.3:c.672+35G>A	XP_011522021.1:n.672+35G>A
XM_011523721.3:c.672+35G>A	XP_011522023.1:n.672+35G>A
XM_017024305.2:c.672+35G>A	XP_016879794.1:n.672+35G>A
XM_017024308.1:c.618+35G>A	XP_016879797.1:n.618+35G>A
XM_017024309.2:c.397-1226G>A	XP_016879798.1:n.397-1226G>A
XM_024450635.1:c.672+35G>A	XP_024306403.1:n.672+35G>A
XR_001752445.2:n.1176+35G>A
NM_144997.7:c.618+35G>A MANE Select	NP_659434.2:n.618+35G>A
NM_001353229.2:c.672+35G>A	NP_001340158.1:n.672+35G>A
NM_001353230.2:c.618+35G>A	NP_001340159.1:n.618+35G>A
NM_001353231.2:c.618+35G>A	NP_001340160.1:n.618+35G>A
NM_144606.7:c.618+35G>A	NP_653207.1:n.618+35G>A