Canonical Allele Identifier: CA3223488279
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261731G= , CM000679.2:g.31261731G= GRCh38
NC_000017.10:g.29588749G= , CM000679.1:g.29588749G= GRCh37
NC_000017.9:g.26612875G= NCBI36
NG_009018.1:g.171755G= , LRG_214:g.171755G=

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.4598G= MANE Select NP_001035957.1:p.Arg1533=
ENST00000358273.9:c.4598G= MANE Select ENSP00000351015.4:p.Arg1533=
NM_000267.3:c.4535G= , LRG_214t1:c.4535G= NP_000258.1:p.Arg1512=
NM_001042492.2:c.4598G= , LRG_214t2:c.4598G= NP_001035957.1:p.Arg1533=
ENST00000356175.7:c.4535G= ENSP00000348498.3:p.Arg1512=
ENST00000358273.8:c.4598G= ENSP00000351015.4:p.Arg1533=
ENST00000456735.6:c.3533G= ENSP00000389907.2:p.Arg1178=
ENST00000466819.5:c.1114G=
ENST00000479614.1:c.1051G=
ENST00000493220.5:n.3071G=
ENST00000579081.5:c.4637G= ENSP00000462408.1:p.Arg1546=
ENST00000581113.7:c.400G= ENSP00000492721.2:p.Asp134=
ENST00000687863.1:n.1243G=
ENST00000691014.1:c.4628G= ENSP00000510595.1:p.Arg1543=
ENST00000696138.1:c.4580G= ENSP00000512431.1:p.Arg1527=
ENST00000696140.1:n.704G=
ENST00000696141.1:c.589G=
XM_005257983.1:c.4598G= XP_005258040.1:p.Arg1533=
XM_005257984.1:c.4535G= XP_005258041.1:p.Arg1512=
XM_006721922.1:c.4628G= XP_006721985.1:p.Arg1543=
XM_006721923.2:c.4589G= XP_006721986.1:p.Arg1530=
XM_006721924.1:c.4628G= XP_006721987.1:p.Arg1543=
XM_006721925.1:c.4565G= XP_006721988.1:p.Arg1522=
XM_006721926.2:c.4628G= XP_006721989.1:p.Arg1543=
XM_006721927.1:c.4628G= XP_006721990.1:p.Arg1543=
XM_006721928.2:c.4628G= XP_006721991.1:p.Arg1543=
XM_011524852.1:c.4625G= XP_011523154.1:p.Arg1542=
XM_011524853.1:c.4589G= XP_011523155.1:p.Arg1530=
XM_011524854.1:c.4589G= XP_011523156.1:p.Arg1530=
XM_011524855.1:c.4589G= XP_011523157.1:p.Arg1530=
XM_011524856.1:c.4589G= XP_011523158.1:p.Arg1530=
XM_011524857.1:c.4628G= XP_011523159.1:p.Arg1543=