Canonical Allele Identifier: CA399000076
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457705
dbSNP Id: rs1555618996
COSMIC: COSM27356

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261709A>G , CM000679.2:g.31261709A>G GRCh38
NC_000017.10:g.29588727A>G , CM000679.1:g.29588727A>G GRCh37
NC_000017.9:g.26612853A>G NCBI36
NG_009018.1:g.171733A>G , LRG_214:g.171733A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.378A>G ENSP00000492721.2:p.Leu126=
ENST00000696138.1:c.4560-2A>G ENSP00000512431.1:n.4560-2A>G
ENST00000696140.1:n.684-2A>G
ENST00000696141.1:c.569-2A>G
ENST00000687863.1:n.1223-2A>G
ENST00000691014.1:c.4608-2A>G ENSP00000510595.1:n.4608-2A>G
ENST00000358273.9:c.4578-2A>G MANE Select ENSP00000351015.4:n.4578-2A>G
ENST00000356175.7:c.4515-2A>G ENSP00000348498.3:n.4515-2A>G
ENST00000358273.8:c.4578-2A>G ENSP00000351015.4:n.4578-2A>G
ENST00000456735.6:c.3513-2A>G ENSP00000389907.2:n.3513-2A>G
ENST00000466819.5:c.1094-2A>G
ENST00000479614.1:c.1031-2A>G
ENST00000493220.5:n.3051-2A>G
ENST00000579081.5:c.4617-2A>G ENSP00000462408.1:n.4617-2A>G
NM_000267.3:c.4515-2A>G , LRG_214t1:c.4515-2A>G NP_000258.1:n.4515-2A>G
NM_001042492.2:c.4578-2A>G , LRG_214t2:c.4578-2A>G NP_001035957.1:n.4578-2A>G
XM_005257983.1:c.4578-2A>G XP_005258040.1:n.4578-2A>G
XM_005257984.1:c.4515-2A>G XP_005258041.1:n.4515-2A>G
XM_006721922.1:c.4608-2A>G XP_006721985.1:n.4608-2A>G
XM_006721923.2:c.4569-2A>G XP_006721986.1:n.4569-2A>G
XM_006721924.1:c.4608-2A>G XP_006721987.1:n.4608-2A>G
XM_006721925.1:c.4545-2A>G XP_006721988.1:n.4545-2A>G
XM_006721926.2:c.4608-2A>G XP_006721989.1:n.4608-2A>G
XM_006721927.1:c.4608-2A>G XP_006721990.1:n.4608-2A>G
XM_006721928.2:c.4608-2A>G XP_006721991.1:n.4608-2A>G
XM_011524852.1:c.4605-2A>G XP_011523154.1:n.4605-2A>G
XM_011524853.1:c.4569-2A>G XP_011523155.1:n.4569-2A>G
XM_011524854.1:c.4569-2A>G XP_011523156.1:n.4569-2A>G
XM_011524855.1:c.4569-2A>G XP_011523157.1:n.4569-2A>G
XM_011524856.1:c.4569-2A>G XP_011523158.1:n.4569-2A>G
XM_011524857.1:c.4608-2A>G XP_011523159.1:n.4608-2A>G
NM_001042492.3:c.4578-2A>G MANE Select NP_001035957.1:n.4578-2A>G