Canonical Allele Identifier: CA398990781
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2067145586

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31233213G>T , CM000679.2:g.31233213G>T GRCh38
NC_000017.10:g.29560231G>T , CM000679.1:g.29560231G>T GRCh37
NC_000017.9:g.26584357G>T NCBI36
NG_009018.1:g.143237G>T , LRG_214:g.143237G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.3753G>T ENSP00000512431.1:p.Trp1251Cys
ENST00000696139.1:c.1053G>T ENSP00000512432.1:p.Trp351Cys
ENST00000691014.1:c.3738G>T ENSP00000510595.1:p.Trp1246Cys
ENST00000693210.1:n.434G>T
ENST00000358273.9:c.3708G>T MANE Select ENSP00000351015.4:p.Trp1236Cys
ENST00000356175.7:c.3708G>T ENSP00000348498.3:p.Trp1236Cys
ENST00000358273.8:c.3708G>T ENSP00000351015.4:p.Trp1236Cys
ENST00000456735.6:c.2706G>T ENSP00000389907.2:p.Trp902Cys
ENST00000466819.5:c.184G>T
ENST00000479614.1:c.184G>T
ENST00000493220.5:n.2244G>T
ENST00000495910.6:c.3483G>T
ENST00000579081.5:c.3810G>T ENSP00000462408.1:p.Trp1270Cys
NM_000267.3:c.3708G>T , LRG_214t1:c.3708G>T NP_000258.1:p.Trp1236Cys
NM_001042492.2:c.3708G>T , LRG_214t2:c.3708G>T NP_001035957.1:p.Trp1236Cys
XM_005257983.1:c.3708G>T XP_005258040.1:p.Trp1236Cys
XM_005257984.1:c.3708G>T XP_005258041.1:p.Trp1236Cys
XM_006721922.1:c.3738G>T XP_006721985.1:p.Trp1246Cys
XM_006721923.2:c.3699G>T XP_006721986.1:p.Trp1233Cys
XM_006721924.1:c.3738G>T XP_006721987.1:p.Trp1246Cys
XM_006721925.1:c.3738G>T XP_006721988.1:p.Trp1246Cys
XM_006721926.2:c.3738G>T XP_006721989.1:p.Trp1246Cys
XM_006721927.1:c.3738G>T XP_006721990.1:p.Trp1246Cys
XM_006721928.2:c.3738G>T XP_006721991.1:p.Trp1246Cys
XM_011524852.1:c.3735G>T XP_011523154.1:p.Trp1245Cys
XM_011524853.1:c.3699G>T XP_011523155.1:p.Trp1233Cys
XM_011524854.1:c.3699G>T XP_011523156.1:p.Trp1233Cys
XM_011524855.1:c.3699G>T XP_011523157.1:p.Trp1233Cys
XM_011524856.1:c.3699G>T XP_011523158.1:p.Trp1233Cys
XM_011524857.1:c.3738G>T XP_011523159.1:p.Trp1246Cys
NM_001042492.3:c.3708G>T MANE Select NP_001035957.1:p.Trp1236Cys