Canonical Allele Identifier: CA399013994
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338033T>G , CM000679.2:g.31338033T>G GRCh38
NC_000017.10:g.29665051T>G , CM000679.1:g.29665051T>G GRCh37
NC_000017.9:g.26689177T>G NCBI36
NG_009018.1:g.248057T>G , LRG_214:g.248057T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6695T>G ENSP00000512431.1:p.Phe2232Cys
ENST00000684826.1:c.1277T>G ENSP00000509994.1:p.Phe426Cys
ENST00000684998.1:n.1971T>G
ENST00000687027.1:c.869T>G ENSP00000508715.1:p.Phe290Cys
ENST00000687863.1:n.3358T>G
ENST00000691014.1:c.6743T>G ENSP00000510595.1:p.Phe2248Cys
ENST00000693617.1:c.1277T>G ENSP00000510031.1:p.Phe426Cys
ENST00000358273.9:c.6713T>G MANE Select ENSP00000351015.4:p.Phe2238Cys
ENST00000356175.7:c.6650T>G ENSP00000348498.3:p.Phe2217Cys
ENST00000358273.8:c.6713T>G ENSP00000351015.4:p.Phe2238Cys
ENST00000456735.6:c.5648T>G ENSP00000389907.2:p.Phe1883Cys
ENST00000471572.6:c.96T>G
ENST00000579081.5:c.6849T>G ENSP00000462408.1:n.6849T>G
ENST00000581790.5:c.64+153T>G
ENST00000584328.1:n.127T>G
NM_000267.3:c.6650T>G , LRG_214t1:c.6650T>G NP_000258.1:p.Phe2217Cys
NM_001042492.2:c.6713T>G , LRG_214t2:c.6713T>G NP_001035957.1:p.Phe2238Cys
XM_005257983.1:c.6713T>G XP_005258040.1:p.Phe2238Cys
XM_005257984.1:c.6650T>G XP_005258041.1:p.Phe2217Cys
XM_006721922.1:c.6743T>G XP_006721985.1:p.Phe2248Cys
XM_006721923.2:c.6704T>G XP_006721986.1:p.Phe2235Cys
XM_006721924.1:c.6743T>G XP_006721987.1:p.Phe2248Cys
XM_006721925.1:c.6680T>G XP_006721988.1:p.Phe2227Cys
XM_006721926.2:c.6743T>G XP_006721989.1:p.Phe2248Cys
XM_006721927.1:c.6743T>G XP_006721990.1:p.Phe2248Cys
XM_011524852.1:c.6740T>G XP_011523154.1:p.Phe2247Cys
XM_011524853.1:c.6704T>G XP_011523155.1:p.Phe2235Cys
XM_011524854.1:c.6704T>G XP_011523156.1:p.Phe2235Cys
XM_011524855.1:c.6704T>G XP_011523157.1:p.Phe2235Cys
XM_011524856.1:c.6704T>G XP_011523158.1:p.Phe2235Cys
XM_011524857.1:c.6743T>G XP_011523159.1:p.Phe2248Cys
NM_001042492.3:c.6713T>G MANE Select NP_001035957.1:p.Phe2238Cys