Canonical Allele Identifier: CA398999879
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151464825

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31260497A>T , CM000679.2:g.31260497A>T GRCh38
NC_000017.10:g.29587515A>T , CM000679.1:g.29587515A>T GRCh37
NC_000017.9:g.26611641A>T NCBI36
NG_009018.1:g.170521A>T , LRG_214:g.170521A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.347A>T ENSP00000492721.2:p.Gln116Leu
ENST00000696138.1:c.4541A>T ENSP00000512431.1:p.Gln1514Leu
ENST00000696140.1:n.665A>T
ENST00000696141.1:c.550A>T
ENST00000687863.1:n.1204A>T
ENST00000691014.1:c.4589A>T ENSP00000510595.1:p.Gln1530Leu
ENST00000691649.1:n.1770A>T
ENST00000358273.9:c.4559A>T MANE Select ENSP00000351015.4:p.Gln1520Leu
ENST00000356175.7:c.4496A>T ENSP00000348498.3:p.Gln1499Leu
ENST00000358273.8:c.4559A>T ENSP00000351015.4:p.Gln1520Leu
ENST00000456735.6:c.3494A>T ENSP00000389907.2:p.Gln1165Leu
ENST00000466819.5:c.1075A>T
ENST00000479614.1:c.1012A>T
ENST00000493220.5:n.3032A>T
ENST00000579081.5:c.4598A>T ENSP00000462408.1:p.Gln1533Leu
NM_000267.3:c.4496A>T , LRG_214t1:c.4496A>T NP_000258.1:p.Gln1499Leu
NM_001042492.2:c.4559A>T , LRG_214t2:c.4559A>T NP_001035957.1:p.Gln1520Leu
XM_005257983.1:c.4559A>T XP_005258040.1:p.Gln1520Leu
XM_005257984.1:c.4496A>T XP_005258041.1:p.Gln1499Leu
XM_006721922.1:c.4589A>T XP_006721985.1:p.Gln1530Leu
XM_006721923.2:c.4550A>T XP_006721986.1:p.Gln1517Leu
XM_006721924.1:c.4589A>T XP_006721987.1:p.Gln1530Leu
XM_006721925.1:c.4526A>T XP_006721988.1:p.Gln1509Leu
XM_006721926.2:c.4589A>T XP_006721989.1:p.Gln1530Leu
XM_006721927.1:c.4589A>T XP_006721990.1:p.Gln1530Leu
XM_006721928.2:c.4589A>T XP_006721991.1:p.Gln1530Leu
XM_011524852.1:c.4586A>T XP_011523154.1:p.Gln1529Leu
XM_011524853.1:c.4550A>T XP_011523155.1:p.Gln1517Leu
XM_011524854.1:c.4550A>T XP_011523156.1:p.Gln1517Leu
XM_011524855.1:c.4550A>T XP_011523157.1:p.Gln1517Leu
XM_011524856.1:c.4550A>T XP_011523158.1:p.Gln1517Leu
XM_011524857.1:c.4589A>T XP_011523159.1:p.Gln1530Leu
NM_001042492.3:c.4559A>T MANE Select NP_001035957.1:p.Gln1520Leu