Canonical Allele Identifier: CA16620368
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423790
ClinVar RCV Id: RCV000478423
dbSNP Id: rs1064796633

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261730A>T , CM000679.2:g.31261730A>T GRCh38
NC_000017.10:g.29588748A>T , CM000679.1:g.29588748A>T GRCh37
NC_000017.9:g.26612874A>T NCBI36
NG_009018.1:g.171754A>T , LRG_214:g.171754A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.399A>T ENSP00000492721.2:p.Glu133Asp
ENST00000696138.1:c.4579A>T ENSP00000512431.1:p.Arg1527Ter
ENST00000696140.1:n.703A>T
ENST00000696141.1:c.588A>T
ENST00000687863.1:n.1242A>T
ENST00000691014.1:c.4627A>T ENSP00000510595.1:p.Arg1543Ter
ENST00000358273.9:c.4597A>T MANE Select ENSP00000351015.4:p.Arg1533Ter
ENST00000356175.7:c.4534A>T ENSP00000348498.3:p.Arg1512Ter
ENST00000358273.8:c.4597A>T ENSP00000351015.4:p.Arg1533Ter
ENST00000456735.6:c.3532A>T ENSP00000389907.2:p.Arg1178Ter
ENST00000466819.5:c.1113A>T
ENST00000479614.1:c.1050A>T
ENST00000493220.5:n.3070A>T
ENST00000579081.5:c.4636A>T ENSP00000462408.1:p.Arg1546Ter
NM_000267.3:c.4534A>T , LRG_214t1:c.4534A>T NP_000258.1:p.Arg1512Ter
NM_001042492.2:c.4597A>T , LRG_214t2:c.4597A>T NP_001035957.1:p.Arg1533Ter
XM_005257983.1:c.4597A>T XP_005258040.1:p.Arg1533Ter
XM_005257984.1:c.4534A>T XP_005258041.1:p.Arg1512Ter
XM_006721922.1:c.4627A>T XP_006721985.1:p.Arg1543Ter
XM_006721923.2:c.4588A>T XP_006721986.1:p.Arg1530Ter
XM_006721924.1:c.4627A>T XP_006721987.1:p.Arg1543Ter
XM_006721925.1:c.4564A>T XP_006721988.1:p.Arg1522Ter
XM_006721926.2:c.4627A>T XP_006721989.1:p.Arg1543Ter
XM_006721927.1:c.4627A>T XP_006721990.1:p.Arg1543Ter
XM_006721928.2:c.4627A>T XP_006721991.1:p.Arg1543Ter
XM_011524852.1:c.4624A>T XP_011523154.1:p.Arg1542Ter
XM_011524853.1:c.4588A>T XP_011523155.1:p.Arg1530Ter
XM_011524854.1:c.4588A>T XP_011523156.1:p.Arg1530Ter
XM_011524855.1:c.4588A>T XP_011523157.1:p.Arg1530Ter
XM_011524856.1:c.4588A>T XP_011523158.1:p.Arg1530Ter
XM_011524857.1:c.4627A>T XP_011523159.1:p.Arg1543Ter
NM_001042492.3:c.4597A>T MANE Select NP_001035957.1:p.Arg1533Ter