Canonical Allele Identifier: CA2255605070
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31343035C= , CM000679.2:g.31343035C= GRCh38
NC_000017.10:g.29670053C= , CM000679.1:g.29670053C= GRCh37
NC_000017.9:g.26694179C= NCBI36
NG_009018.1:g.253059C= , LRG_214:g.253059C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7071C= ENSP00000512431.1:p.Ile2357=
ENST00000684826.1:c.1653C= ENSP00000509994.1:p.Ile551=
ENST00000687027.1:c.1245C= ENSP00000508715.1:p.Ile415=
ENST00000687863.1:n.3734C=
ENST00000689464.1:c.28C=
ENST00000691014.1:c.7119C= ENSP00000510595.1:p.Ile2373=
ENST00000693617.1:c.1653C= ENSP00000510031.1:p.Ile551=
ENST00000358273.9:c.7089C= MANE Select ENSP00000351015.4:p.Ile2363=
ENST00000356175.7:c.7026C= ENSP00000348498.3:p.Ile2342=
ENST00000358273.8:c.7089C= ENSP00000351015.4:p.Ile2363=
ENST00000456735.6:c.6024C= ENSP00000389907.2:p.Ile2008=
ENST00000471572.6:c.472C=
ENST00000579081.5:c.7225C= ENSP00000462408.1:n.7225C=
ENST00000581790.5:c.232C=
ENST00000582892.1:n.331C=
ENST00000584328.1:n.503C=
NM_000267.3:c.7026C= , LRG_214t1:c.7026C= NP_000258.1:p.Ile2342=
NM_001042492.2:c.7089C= , LRG_214t2:c.7089C= NP_001035957.1:p.Ile2363=
XM_005257983.1:c.7089C= XP_005258040.1:p.Ile2363=
XM_005257984.1:c.7026C= XP_005258041.1:p.Ile2342=
XM_006721922.1:c.7119C= XP_006721985.1:p.Ile2373=
XM_006721923.2:c.7080C= XP_006721986.1:p.Ile2360=
XM_006721924.1:c.7119C= XP_006721987.1:p.Ile2373=
XM_006721925.1:c.7056C= XP_006721988.1:p.Ile2352=
XM_006721926.2:c.7119C= XP_006721989.1:p.Ile2373=
XM_006721927.1:c.7119C= XP_006721990.1:p.Ile2373=
XM_011524852.1:c.7116C= XP_011523154.1:p.Ile2372=
XM_011524853.1:c.7080C= XP_011523155.1:p.Ile2360=
XM_011524854.1:c.7080C= XP_011523156.1:p.Ile2360=
XM_011524855.1:c.7080C= XP_011523157.1:p.Ile2360=
XM_011524856.1:c.7080C= XP_011523158.1:p.Ile2360=
XM_011524857.1:c.7119C= XP_011523159.1:p.Ile2373=
NM_001042492.3:c.7089C= MANE Select NP_001035957.1:p.Ile2363=