Canonical Allele Identifier: CA399000431
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1713752
ClinVar RCV Id: RCV002303095

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261800A>T , CM000679.2:g.31261800A>T GRCh38
NC_000017.10:g.29588818A>T , CM000679.1:g.29588818A>T GRCh37
NC_000017.9:g.26612944A>T NCBI36
NG_009018.1:g.171824A>T , LRG_214:g.171824A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.469A>T ENSP00000492721.2:p.Ile157Leu
ENST00000696138.1:c.4649A>T ENSP00000512431.1:p.Asp1550Val
ENST00000696140.1:n.773A>T
ENST00000696141.1:c.658A>T
ENST00000687863.1:n.1312A>T
ENST00000691014.1:c.4697A>T ENSP00000510595.1:p.Asp1566Val
ENST00000358273.9:c.4667A>T MANE Select ENSP00000351015.4:p.Asp1556Val
ENST00000356175.7:c.4604A>T ENSP00000348498.3:p.Asp1535Val
ENST00000358273.8:c.4667A>T ENSP00000351015.4:p.Asp1556Val
ENST00000456735.6:c.3602A>T ENSP00000389907.2:p.Asp1201Val
ENST00000493220.5:n.3140A>T
ENST00000579081.5:c.4706A>T ENSP00000462408.1:p.Asp1569Val
NM_000267.3:c.4604A>T , LRG_214t1:c.4604A>T NP_000258.1:p.Asp1535Val
NM_001042492.2:c.4667A>T , LRG_214t2:c.4667A>T NP_001035957.1:p.Asp1556Val
XM_005257983.1:c.4667A>T XP_005258040.1:p.Asp1556Val
XM_005257984.1:c.4604A>T XP_005258041.1:p.Asp1535Val
XM_006721922.1:c.4697A>T XP_006721985.1:p.Asp1566Val
XM_006721923.2:c.4658A>T XP_006721986.1:p.Asp1553Val
XM_006721924.1:c.4697A>T XP_006721987.1:p.Asp1566Val
XM_006721925.1:c.4634A>T XP_006721988.1:p.Asp1545Val
XM_006721926.2:c.4697A>T XP_006721989.1:p.Asp1566Val
XM_006721927.1:c.4697A>T XP_006721990.1:p.Asp1566Val
XM_006721928.2:c.4697A>T XP_006721991.1:p.Asp1566Val
XM_011524852.1:c.4694A>T XP_011523154.1:p.Asp1565Val
XM_011524853.1:c.4658A>T XP_011523155.1:p.Asp1553Val
XM_011524854.1:c.4658A>T XP_011523156.1:p.Asp1553Val
XM_011524855.1:c.4658A>T XP_011523157.1:p.Asp1553Val
XM_011524856.1:c.4658A>T XP_011523158.1:p.Asp1553Val
XM_011524857.1:c.4697A>T XP_011523159.1:p.Asp1566Val
NM_001042492.3:c.4667A>T MANE Select NP_001035957.1:p.Asp1556Val