Canonical Allele Identifier: CA399014390
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151559310

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338773G>C , CM000679.2:g.31338773G>C GRCh38
NC_000017.10:g.29665791G>C , CM000679.1:g.29665791G>C GRCh37
NC_000017.9:g.26689917G>C NCBI36
NG_009018.1:g.248797G>C , LRG_214:g.248797G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6871G>C ENSP00000512431.1:p.Ala2291Pro
ENST00000684826.1:c.1453G>C ENSP00000509994.1:p.Ala485Pro
ENST00000684998.1:n.2711G>C
ENST00000687027.1:c.1045G>C ENSP00000508715.1:p.Ala349Pro
ENST00000687863.1:n.3534G>C
ENST00000691014.1:c.6919G>C ENSP00000510595.1:p.Ala2307Pro
ENST00000693617.1:c.1453G>C ENSP00000510031.1:p.Ala485Pro
ENST00000358273.9:c.6889G>C MANE Select ENSP00000351015.4:p.Ala2297Pro
ENST00000356175.7:c.6826G>C ENSP00000348498.3:p.Ala2276Pro
ENST00000358273.8:c.6889G>C ENSP00000351015.4:p.Ala2297Pro
ENST00000456735.6:c.5824G>C ENSP00000389907.2:p.Ala1942Pro
ENST00000471572.6:c.272G>C
ENST00000579081.5:c.7025G>C ENSP00000462408.1:n.7025G>C
ENST00000581790.5:c.64+893G>C
ENST00000584328.1:n.303G>C
NM_000267.3:c.6826G>C , LRG_214t1:c.6826G>C NP_000258.1:p.Ala2276Pro
NM_001042492.2:c.6889G>C , LRG_214t2:c.6889G>C NP_001035957.1:p.Ala2297Pro
XM_005257983.1:c.6889G>C XP_005258040.1:p.Ala2297Pro
XM_005257984.1:c.6826G>C XP_005258041.1:p.Ala2276Pro
XM_006721922.1:c.6919G>C XP_006721985.1:p.Ala2307Pro
XM_006721923.2:c.6880G>C XP_006721986.1:p.Ala2294Pro
XM_006721924.1:c.6919G>C XP_006721987.1:p.Ala2307Pro
XM_006721925.1:c.6856G>C XP_006721988.1:p.Ala2286Pro
XM_006721926.2:c.6919G>C XP_006721989.1:p.Ala2307Pro
XM_006721927.1:c.6919G>C XP_006721990.1:p.Ala2307Pro
XM_011524852.1:c.6916G>C XP_011523154.1:p.Ala2306Pro
XM_011524853.1:c.6880G>C XP_011523155.1:p.Ala2294Pro
XM_011524854.1:c.6880G>C XP_011523156.1:p.Ala2294Pro
XM_011524855.1:c.6880G>C XP_011523157.1:p.Ala2294Pro
XM_011524856.1:c.6880G>C XP_011523158.1:p.Ala2294Pro
XM_011524857.1:c.6919G>C XP_011523159.1:p.Ala2307Pro
NM_001042492.3:c.6889G>C MANE Select NP_001035957.1:p.Ala2297Pro