Canonical Allele Identifier: CA399013998
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs1131691093

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338035C>A , CM000679.2:g.31338035C>A GRCh38
NC_000017.10:g.29665053C>A , CM000679.1:g.29665053C>A GRCh37
NC_000017.9:g.26689179C>A NCBI36
NG_009018.1:g.248059C>A , LRG_214:g.248059C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6697C>A ENSP00000512431.1:p.Gln2233Lys
ENST00000684826.1:c.1279C>A ENSP00000509994.1:p.Gln427Lys
ENST00000684998.1:n.1973C>A
ENST00000687027.1:c.871C>A ENSP00000508715.1:p.Gln291Lys
ENST00000687863.1:n.3360C>A
ENST00000691014.1:c.6745C>A ENSP00000510595.1:p.Gln2249Lys
ENST00000693617.1:c.1279C>A ENSP00000510031.1:p.Gln427Lys
ENST00000358273.9:c.6715C>A MANE Select ENSP00000351015.4:p.Gln2239Lys
ENST00000356175.7:c.6652C>A ENSP00000348498.3:p.Gln2218Lys
ENST00000358273.8:c.6715C>A ENSP00000351015.4:p.Gln2239Lys
ENST00000456735.6:c.5650C>A ENSP00000389907.2:p.Gln1884Lys
ENST00000471572.6:c.98C>A
ENST00000579081.5:c.6851C>A ENSP00000462408.1:n.6851C>A
ENST00000581790.5:c.64+155C>A
ENST00000584328.1:n.129C>A
NM_000267.3:c.6652C>A , LRG_214t1:c.6652C>A NP_000258.1:p.Gln2218Lys
NM_001042492.2:c.6715C>A , LRG_214t2:c.6715C>A NP_001035957.1:p.Gln2239Lys
XM_005257983.1:c.6715C>A XP_005258040.1:p.Gln2239Lys
XM_005257984.1:c.6652C>A XP_005258041.1:p.Gln2218Lys
XM_006721922.1:c.6745C>A XP_006721985.1:p.Gln2249Lys
XM_006721923.2:c.6706C>A XP_006721986.1:p.Gln2236Lys
XM_006721924.1:c.6745C>A XP_006721987.1:p.Gln2249Lys
XM_006721925.1:c.6682C>A XP_006721988.1:p.Gln2228Lys
XM_006721926.2:c.6745C>A XP_006721989.1:p.Gln2249Lys
XM_006721927.1:c.6745C>A XP_006721990.1:p.Gln2249Lys
XM_011524852.1:c.6742C>A XP_011523154.1:p.Gln2248Lys
XM_011524853.1:c.6706C>A XP_011523155.1:p.Gln2236Lys
XM_011524854.1:c.6706C>A XP_011523156.1:p.Gln2236Lys
XM_011524855.1:c.6706C>A XP_011523157.1:p.Gln2236Lys
XM_011524856.1:c.6706C>A XP_011523158.1:p.Gln2236Lys
XM_011524857.1:c.6745C>A XP_011523159.1:p.Gln2249Lys
NM_001042492.3:c.6715C>A MANE Select NP_001035957.1:p.Gln2239Lys