Canonical Allele Identifier: CA399014099
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338080T>G , CM000679.2:g.31338080T>G GRCh38
NC_000017.10:g.29665098T>G , CM000679.1:g.29665098T>G GRCh37
NC_000017.9:g.26689224T>G NCBI36
NG_009018.1:g.248104T>G , LRG_214:g.248104T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6742T>G ENSP00000512431.1:p.Cys2248Gly
ENST00000684826.1:c.1324T>G ENSP00000509994.1:p.Cys442Gly
ENST00000684998.1:n.2018T>G
ENST00000687027.1:c.916T>G ENSP00000508715.1:p.Cys306Gly
ENST00000687863.1:n.3405T>G
ENST00000691014.1:c.6790T>G ENSP00000510595.1:p.Cys2264Gly
ENST00000693617.1:c.1324T>G ENSP00000510031.1:p.Cys442Gly
ENST00000358273.9:c.6760T>G MANE Select ENSP00000351015.4:p.Cys2254Gly
ENST00000356175.7:c.6697T>G ENSP00000348498.3:p.Cys2233Gly
ENST00000358273.8:c.6760T>G ENSP00000351015.4:p.Cys2254Gly
ENST00000456735.6:c.5695T>G ENSP00000389907.2:p.Cys1899Gly
ENST00000471572.6:c.143T>G
ENST00000579081.5:c.6896T>G ENSP00000462408.1:n.6896T>G
ENST00000581790.5:c.64+200T>G
ENST00000584328.1:n.174T>G
NM_000267.3:c.6697T>G , LRG_214t1:c.6697T>G NP_000258.1:p.Cys2233Gly
NM_001042492.2:c.6760T>G , LRG_214t2:c.6760T>G NP_001035957.1:p.Cys2254Gly
XM_005257983.1:c.6760T>G XP_005258040.1:p.Cys2254Gly
XM_005257984.1:c.6697T>G XP_005258041.1:p.Cys2233Gly
XM_006721922.1:c.6790T>G XP_006721985.1:p.Cys2264Gly
XM_006721923.2:c.6751T>G XP_006721986.1:p.Cys2251Gly
XM_006721924.1:c.6790T>G XP_006721987.1:p.Cys2264Gly
XM_006721925.1:c.6727T>G XP_006721988.1:p.Cys2243Gly
XM_006721926.2:c.6790T>G XP_006721989.1:p.Cys2264Gly
XM_006721927.1:c.6790T>G XP_006721990.1:p.Cys2264Gly
XM_011524852.1:c.6787T>G XP_011523154.1:p.Cys2263Gly
XM_011524853.1:c.6751T>G XP_011523155.1:p.Cys2251Gly
XM_011524854.1:c.6751T>G XP_011523156.1:p.Cys2251Gly
XM_011524855.1:c.6751T>G XP_011523157.1:p.Cys2251Gly
XM_011524856.1:c.6751T>G XP_011523158.1:p.Cys2251Gly
XM_011524857.1:c.6790T>G XP_011523159.1:p.Cys2264Gly
NM_001042492.3:c.6760T>G MANE Select NP_001035957.1:p.Cys2254Gly