Canonical Allele Identifier: CA289340347

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31235994A>G , CM000679.2:g.31235994A>G	GRCh38
NC_000017.10:g.29563012A>G , CM000679.1:g.29563012A>G	GRCh37
NC_000017.9:g.26587138A>G	NCBI36
NG_009018.1:g.146018A>G , LRG_214:g.146018A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.3947A>G MANE Select	NP_001035957.1:p.His1316Arg
ENST00000358273.9:c.3947A>G MANE Select	ENSP00000351015.4:p.His1316Arg
NM_000267.3:c.3947A>G , LRG_214t1:c.3947A>G	NP_000258.1:p.His1316Arg
NM_001042492.2:c.3947A>G , LRG_214t2:c.3947A>G	NP_001035957.1:p.His1316Arg
ENST00000356175.7:c.3947A>G	ENSP00000348498.3:p.His1316Arg
ENST00000358273.8:c.3947A>G	ENSP00000351015.4:p.His1316Arg
ENST00000456735.6:c.2945A>G	ENSP00000389907.2:p.His982Arg
ENST00000466819.5:c.423A>G
ENST00000479614.1:c.423A>G
ENST00000493220.5:n.2483A>G
ENST00000495910.6:c.3722A>G
ENST00000579081.5:c.4049A>G	ENSP00000462408.1:p.His1350Arg
ENST00000687863.1:n.655A>G
ENST00000691014.1:c.3977A>G	ENSP00000510595.1:p.His1326Arg
ENST00000696138.1:c.3992A>G	ENSP00000512431.1:p.His1331Arg
ENST00000696139.1:c.1292A>G	ENSP00000512432.1:p.His431Arg
XM_005257983.1:c.3947A>G	XP_005258040.1:p.His1316Arg
XM_005257984.1:c.3947A>G	XP_005258041.1:p.His1316Arg
XM_006721922.1:c.3977A>G	XP_006721985.1:p.His1326Arg
XM_006721923.2:c.3938A>G	XP_006721986.1:p.His1313Arg
XM_006721924.1:c.3977A>G	XP_006721987.1:p.His1326Arg
XM_006721925.1:c.3977A>G	XP_006721988.1:p.His1326Arg
XM_006721926.2:c.3977A>G	XP_006721989.1:p.His1326Arg
XM_006721927.1:c.3977A>G	XP_006721990.1:p.His1326Arg
XM_006721928.2:c.3977A>G	XP_006721991.1:p.His1326Arg
XM_011524852.1:c.3974A>G	XP_011523154.1:p.His1325Arg
XM_011524853.1:c.3938A>G	XP_011523155.1:p.His1313Arg
XM_011524854.1:c.3938A>G	XP_011523156.1:p.His1313Arg
XM_011524855.1:c.3938A>G	XP_011523157.1:p.His1313Arg
XM_011524856.1:c.3938A>G	XP_011523158.1:p.His1313Arg
XM_011524857.1:c.3977A>G	XP_011523159.1:p.His1326Arg