Canonical Allele Identifier: CA399013996
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 850627
dbSNP Id: rs2069724756

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338034C>A , CM000679.2:g.31338034C>A GRCh38
NC_000017.10:g.29665052C>A , CM000679.1:g.29665052C>A GRCh37
NC_000017.9:g.26689178C>A NCBI36
NG_009018.1:g.248058C>A , LRG_214:g.248058C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6696C>A ENSP00000512431.1:p.Phe2232Leu
ENST00000684826.1:c.1278C>A ENSP00000509994.1:p.Phe426Leu
ENST00000684998.1:n.1972C>A
ENST00000687027.1:c.870C>A ENSP00000508715.1:p.Phe290Leu
ENST00000687863.1:n.3359C>A
ENST00000691014.1:c.6744C>A ENSP00000510595.1:p.Phe2248Leu
ENST00000693617.1:c.1278C>A ENSP00000510031.1:p.Phe426Leu
ENST00000358273.9:c.6714C>A MANE Select ENSP00000351015.4:p.Phe2238Leu
ENST00000356175.7:c.6651C>A ENSP00000348498.3:p.Phe2217Leu
ENST00000358273.8:c.6714C>A ENSP00000351015.4:p.Phe2238Leu
ENST00000456735.6:c.5649C>A ENSP00000389907.2:p.Phe1883Leu
ENST00000471572.6:c.97C>A
ENST00000579081.5:c.6850C>A ENSP00000462408.1:n.6850C>A
ENST00000581790.5:c.64+154C>A
ENST00000584328.1:n.128C>A
NM_000267.3:c.6651C>A , LRG_214t1:c.6651C>A NP_000258.1:p.Phe2217Leu
NM_001042492.2:c.6714C>A , LRG_214t2:c.6714C>A NP_001035957.1:p.Phe2238Leu
XM_005257983.1:c.6714C>A XP_005258040.1:p.Phe2238Leu
XM_005257984.1:c.6651C>A XP_005258041.1:p.Phe2217Leu
XM_006721922.1:c.6744C>A XP_006721985.1:p.Phe2248Leu
XM_006721923.2:c.6705C>A XP_006721986.1:p.Phe2235Leu
XM_006721924.1:c.6744C>A XP_006721987.1:p.Phe2248Leu
XM_006721925.1:c.6681C>A XP_006721988.1:p.Phe2227Leu
XM_006721926.2:c.6744C>A XP_006721989.1:p.Phe2248Leu
XM_006721927.1:c.6744C>A XP_006721990.1:p.Phe2248Leu
XM_011524852.1:c.6741C>A XP_011523154.1:p.Phe2247Leu
XM_011524853.1:c.6705C>A XP_011523155.1:p.Phe2235Leu
XM_011524854.1:c.6705C>A XP_011523156.1:p.Phe2235Leu
XM_011524855.1:c.6705C>A XP_011523157.1:p.Phe2235Leu
XM_011524856.1:c.6705C>A XP_011523158.1:p.Phe2235Leu
XM_011524857.1:c.6744C>A XP_011523159.1:p.Phe2248Leu
NM_001042492.3:c.6714C>A MANE Select NP_001035957.1:p.Phe2238Leu