Canonical Allele Identifier: CA398997535
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1510675
dbSNP Id: rs2151461782

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31258354A>G , CM000679.2:g.31258354A>G GRCh38
NC_000017.10:g.29585372A>G , CM000679.1:g.29585372A>G GRCh37
NC_000017.9:g.26609498A>G NCBI36
NG_009018.1:g.168378A>G , LRG_214:g.168378A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.4166A>G ENSP00000512431.1:p.Gln1389Arg
ENST00000696140.1:n.290A>G
ENST00000696141.1:c.175A>G
ENST00000687863.1:n.829A>G
ENST00000691014.1:c.4214A>G ENSP00000510595.1:p.Gln1405Arg
ENST00000691649.1:n.156A>G
ENST00000358273.9:c.4184A>G MANE Select ENSP00000351015.4:p.Gln1395Arg
ENST00000356175.7:c.4121A>G ENSP00000348498.3:p.Gln1374Arg
ENST00000358273.8:c.4184A>G ENSP00000351015.4:p.Gln1395Arg
ENST00000456735.6:c.3119A>G ENSP00000389907.2:p.Gln1040Arg
ENST00000466819.5:c.700A>G
ENST00000479614.1:c.637A>G
ENST00000493220.5:n.2657A>G
ENST00000579081.5:c.4223A>G ENSP00000462408.1:p.Gln1408Arg
NM_000267.3:c.4121A>G , LRG_214t1:c.4121A>G NP_000258.1:p.Gln1374Arg
NM_001042492.2:c.4184A>G , LRG_214t2:c.4184A>G NP_001035957.1:p.Gln1395Arg
XM_005257983.1:c.4184A>G XP_005258040.1:p.Gln1395Arg
XM_005257984.1:c.4121A>G XP_005258041.1:p.Gln1374Arg
XM_006721922.1:c.4214A>G XP_006721985.1:p.Gln1405Arg
XM_006721923.2:c.4175A>G XP_006721986.1:p.Gln1392Arg
XM_006721924.1:c.4214A>G XP_006721987.1:p.Gln1405Arg
XM_006721925.1:c.4151A>G XP_006721988.1:p.Gln1384Arg
XM_006721926.2:c.4214A>G XP_006721989.1:p.Gln1405Arg
XM_006721927.1:c.4214A>G XP_006721990.1:p.Gln1405Arg
XM_006721928.2:c.4214A>G XP_006721991.1:p.Gln1405Arg
XM_011524852.1:c.4211A>G XP_011523154.1:p.Gln1404Arg
XM_011524853.1:c.4175A>G XP_011523155.1:p.Gln1392Arg
XM_011524854.1:c.4175A>G XP_011523156.1:p.Gln1392Arg
XM_011524855.1:c.4175A>G XP_011523157.1:p.Gln1392Arg
XM_011524856.1:c.4175A>G XP_011523158.1:p.Gln1392Arg
XM_011524857.1:c.4214A>G XP_011523159.1:p.Gln1405Arg
NM_001042492.3:c.4184A>G MANE Select NP_001035957.1:p.Gln1395Arg