Canonical Allele Identifier: CA399010441
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31330460A>C , CM000679.2:g.31330460A>C GRCh38
NC_000017.10:g.29657478A>C , CM000679.1:g.29657478A>C GRCh37
NC_000017.9:g.26681604A>C NCBI36
NG_009018.1:g.240484A>C , LRG_214:g.240484A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.1962A>C ENSP00000492721.2:n.1962A>C
ENST00000696138.1:c.5756A>C ENSP00000512431.1:p.Glu1919Ala
ENST00000684826.1:c.338A>C ENSP00000509994.1:p.Glu113Ala
ENST00000687027.1:c.-71A>C ENSP00000508715.1:n.-71A>C
ENST00000687863.1:n.2419A>C
ENST00000691014.1:c.5804A>C ENSP00000510595.1:p.Glu1935Ala
ENST00000693617.1:c.338A>C ENSP00000510031.1:p.Glu113Ala
ENST00000358273.9:c.5774A>C MANE Select ENSP00000351015.4:p.Glu1925Ala
ENST00000356175.7:c.5711A>C ENSP00000348498.3:p.Glu1904Ala
ENST00000358273.8:c.5774A>C ENSP00000351015.4:p.Glu1925Ala
ENST00000456735.6:c.4709A>C ENSP00000389907.2:p.Glu1570Ala
ENST00000479536.2:c.132A>C
ENST00000493220.5:n.4247A>C
ENST00000579081.5:c.5910A>C ENSP00000462408.1:n.5910A>C
ENST00000581113.6:n.1091A>C
NM_000267.3:c.5711A>C , LRG_214t1:c.5711A>C NP_000258.1:p.Glu1904Ala
NM_001042492.2:c.5774A>C , LRG_214t2:c.5774A>C NP_001035957.1:p.Glu1925Ala
XM_005257983.1:c.5774A>C XP_005258040.1:p.Glu1925Ala
XM_005257984.1:c.5711A>C XP_005258041.1:p.Glu1904Ala
XM_006721922.1:c.5804A>C XP_006721985.1:p.Glu1935Ala
XM_006721923.2:c.5765A>C XP_006721986.1:p.Glu1922Ala
XM_006721924.1:c.5804A>C XP_006721987.1:p.Glu1935Ala
XM_006721925.1:c.5741A>C XP_006721988.1:p.Glu1914Ala
XM_006721926.2:c.5804A>C XP_006721989.1:p.Glu1935Ala
XM_006721927.1:c.5804A>C XP_006721990.1:p.Glu1935Ala
XM_011524852.1:c.5801A>C XP_011523154.1:p.Glu1934Ala
XM_011524853.1:c.5765A>C XP_011523155.1:p.Glu1922Ala
XM_011524854.1:c.5765A>C XP_011523156.1:p.Glu1922Ala
XM_011524855.1:c.5765A>C XP_011523157.1:p.Glu1922Ala
XM_011524856.1:c.5765A>C XP_011523158.1:p.Glu1922Ala
XM_011524857.1:c.5804A>C XP_011523159.1:p.Glu1935Ala
NM_001042492.3:c.5774A>C MANE Select NP_001035957.1:p.Glu1925Ala