Canonical Allele Identifier: CA399015719
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31343103T>G , CM000679.2:g.31343103T>G GRCh38
NC_000017.10:g.29670121T>G , CM000679.1:g.29670121T>G GRCh37
NC_000017.9:g.26694247T>G NCBI36
NG_009018.1:g.253127T>G , LRG_214:g.253127T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7139T>G ENSP00000512431.1:p.Phe2380Cys
ENST00000684826.1:c.1721T>G ENSP00000509994.1:p.Phe574Cys
ENST00000687027.1:c.1313T>G ENSP00000508715.1:p.Phe438Cys
ENST00000687863.1:n.3802T>G
ENST00000689464.1:c.96T>G
ENST00000691014.1:c.7187T>G ENSP00000510595.1:p.Phe2396Cys
ENST00000693617.1:c.1721T>G ENSP00000510031.1:p.Phe574Cys
ENST00000358273.9:c.7157T>G MANE Select ENSP00000351015.4:p.Phe2386Cys
ENST00000356175.7:c.7094T>G ENSP00000348498.3:p.Phe2365Cys
ENST00000358273.8:c.7157T>G ENSP00000351015.4:p.Phe2386Cys
ENST00000456735.6:c.6092T>G ENSP00000389907.2:p.Phe2031Cys
ENST00000471572.6:c.540T>G
ENST00000579081.5:c.7293T>G ENSP00000462408.1:n.7293T>G
ENST00000581790.5:c.300T>G
ENST00000582892.1:n.399T>G
NM_000267.3:c.7094T>G , LRG_214t1:c.7094T>G NP_000258.1:p.Phe2365Cys
NM_001042492.2:c.7157T>G , LRG_214t2:c.7157T>G NP_001035957.1:p.Phe2386Cys
XM_005257983.1:c.7157T>G XP_005258040.1:p.Phe2386Cys
XM_005257984.1:c.7094T>G XP_005258041.1:p.Phe2365Cys
XM_006721922.1:c.7187T>G XP_006721985.1:p.Phe2396Cys
XM_006721923.2:c.7148T>G XP_006721986.1:p.Phe2383Cys
XM_006721924.1:c.7187T>G XP_006721987.1:p.Phe2396Cys
XM_006721925.1:c.7124T>G XP_006721988.1:p.Phe2375Cys
XM_006721926.2:c.7187T>G XP_006721989.1:p.Phe2396Cys
XM_006721927.1:c.7187T>G XP_006721990.1:p.Phe2396Cys
XM_011524852.1:c.7184T>G XP_011523154.1:p.Phe2395Cys
XM_011524853.1:c.7148T>G XP_011523155.1:p.Phe2383Cys
XM_011524854.1:c.7148T>G XP_011523156.1:p.Phe2383Cys
XM_011524855.1:c.7148T>G XP_011523157.1:p.Phe2383Cys
XM_011524856.1:c.7148T>G XP_011523158.1:p.Phe2383Cys
XM_011524857.1:c.7187T>G XP_011523159.1:p.Phe2396Cys
NM_001042492.3:c.7157T>G MANE Select NP_001035957.1:p.Phe2386Cys