Canonical Allele Identifier: CA3223488228
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31337875T= , CM000679.2:g.31337875T= GRCh38
NC_000017.10:g.29664893T= , CM000679.1:g.29664893T= GRCh37
NC_000017.9:g.26689019T= NCBI36
NG_009018.1:g.247899T= , LRG_214:g.247899T=

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.6699T= MANE Select NP_001035957.1:p.Ala2233=
ENST00000358273.9:c.6699T= MANE Select ENSP00000351015.4:p.Ala2233=
NM_000267.3:c.6636T= , LRG_214t1:c.6636T= NP_000258.1:p.Ala2212=
NM_001042492.2:c.6699T= , LRG_214t2:c.6699T= NP_001035957.1:p.Ala2233=
ENST00000356175.7:c.6636T= ENSP00000348498.3:p.Ala2212=
ENST00000358273.8:c.6699T= ENSP00000351015.4:p.Ala2233=
ENST00000456735.6:c.5634T= ENSP00000389907.2:p.Ala1878=
ENST00000471572.6:c.59T=
ENST00000579081.5:c.6835T= ENSP00000462408.1:n.6835T=
ENST00000581790.5:c.59T=
ENST00000584328.1:n.113T=
ENST00000684826.1:c.1263T= ENSP00000509994.1:p.Ala421=
ENST00000684998.1:n.1813T=
ENST00000687027.1:c.855T= ENSP00000508715.1:p.Ala285=
ENST00000687863.1:n.3344T=
ENST00000691014.1:c.6729T= ENSP00000510595.1:p.Ala2243=
ENST00000693617.1:c.1263T= ENSP00000510031.1:p.Ala421=
ENST00000696138.1:c.6681T= ENSP00000512431.1:p.Ala2227=
XM_005257983.1:c.6699T= XP_005258040.1:p.Ala2233=
XM_005257984.1:c.6636T= XP_005258041.1:p.Ala2212=
XM_006721922.1:c.6729T= XP_006721985.1:p.Ala2243=
XM_006721923.2:c.6690T= XP_006721986.1:p.Ala2230=
XM_006721924.1:c.6729T= XP_006721987.1:p.Ala2243=
XM_006721925.1:c.6666T= XP_006721988.1:p.Ala2222=
XM_006721926.2:c.6729T= XP_006721989.1:p.Ala2243=
XM_006721927.1:c.6729T= XP_006721990.1:p.Ala2243=
XM_011524852.1:c.6726T= XP_011523154.1:p.Ala2242=
XM_011524853.1:c.6690T= XP_011523155.1:p.Ala2230=
XM_011524854.1:c.6690T= XP_011523156.1:p.Ala2230=
XM_011524855.1:c.6690T= XP_011523157.1:p.Ala2230=
XM_011524856.1:c.6690T= XP_011523158.1:p.Ala2230=
XM_011524857.1:c.6729T= XP_011523159.1:p.Ala2243=