Canonical Allele Identifier: CA336022
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 215713
ClinVar RCV Id: RCV001475463
dbSNP Id: rs863224353

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31248999G>A , CM000679.2:g.31248999G>A GRCh38
NC_000017.10:g.29576017G>A , CM000679.1:g.29576017G>A GRCh37
NC_000017.9:g.26600143G>A NCBI36
NG_009018.1:g.159023G>A , LRG_214:g.159023G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.4035G>A ENSP00000512431.1:p.Glu1345=
ENST00000696139.1:c.1453G>A ENSP00000512432.1:n.1453G>A
ENST00000696140.1:n.96G>A
ENST00000687863.1:n.698G>A
ENST00000691014.1:c.4020G>A ENSP00000510595.1:p.Glu1340=
ENST00000358273.9:c.3990G>A MANE Select ENSP00000351015.4:p.Glu1330=
ENST00000356175.7:c.3990G>A ENSP00000348498.3:p.Glu1330=
ENST00000358273.8:c.3990G>A ENSP00000351015.4:p.Glu1330=
ENST00000456735.6:c.2988G>A ENSP00000389907.2:p.Glu996=
ENST00000466819.5:c.466G>A
ENST00000479614.1:c.466G>A
ENST00000493220.5:n.2526G>A
ENST00000495910.6:c.3765G>A
ENST00000579081.5:c.4092G>A ENSP00000462408.1:p.Glu1364=
NM_000267.3:c.3990G>A , LRG_214t1:c.3990G>A NP_000258.1:p.Glu1330=
NM_001042492.2:c.3990G>A , LRG_214t2:c.3990G>A NP_001035957.1:p.Glu1330=
XM_005257983.1:c.3990G>A XP_005258040.1:p.Glu1330=
XM_005257984.1:c.3990G>A XP_005258041.1:p.Glu1330=
XM_006721922.1:c.4020G>A XP_006721985.1:p.Glu1340=
XM_006721923.2:c.3981G>A XP_006721986.1:p.Glu1327=
XM_006721924.1:c.4020G>A XP_006721987.1:p.Glu1340=
XM_006721925.1:c.4020G>A XP_006721988.1:p.Glu1340=
XM_006721926.2:c.4020G>A XP_006721989.1:p.Glu1340=
XM_006721927.1:c.4020G>A XP_006721990.1:p.Glu1340=
XM_006721928.2:c.4020G>A XP_006721991.1:p.Glu1340=
XM_011524852.1:c.4017G>A XP_011523154.1:p.Glu1339=
XM_011524853.1:c.3981G>A XP_011523155.1:p.Glu1327=
XM_011524854.1:c.3981G>A XP_011523156.1:p.Glu1327=
XM_011524855.1:c.3981G>A XP_011523157.1:p.Glu1327=
XM_011524856.1:c.3981G>A XP_011523158.1:p.Glu1327=
XM_011524857.1:c.4020G>A XP_011523159.1:p.Glu1340=
NM_001042492.3:c.3990G>A MANE Select NP_001035957.1:p.Glu1330=