Canonical Allele Identifier: CA398999932
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2129176
ClinVar RCV Id: RCV003040409

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31260505T>C , CM000679.2:g.31260505T>C GRCh38
NC_000017.10:g.29587523T>C , CM000679.1:g.29587523T>C GRCh37
NC_000017.9:g.26611649T>C NCBI36
NG_009018.1:g.170529T>C , LRG_214:g.170529T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.355T>C ENSP00000492721.2:p.Ser119Pro
ENST00000696138.1:c.4549T>C ENSP00000512431.1:p.Ser1517Pro
ENST00000696140.1:n.673T>C
ENST00000696141.1:c.558T>C
ENST00000687863.1:n.1212T>C
ENST00000691014.1:c.4597T>C ENSP00000510595.1:p.Ser1533Pro
ENST00000691649.1:n.1778T>C
ENST00000358273.9:c.4567T>C MANE Select ENSP00000351015.4:p.Ser1523Pro
ENST00000356175.7:c.4504T>C ENSP00000348498.3:p.Ser1502Pro
ENST00000358273.8:c.4567T>C ENSP00000351015.4:p.Ser1523Pro
ENST00000456735.6:c.3502T>C ENSP00000389907.2:p.Ser1168Pro
ENST00000466819.5:c.1083T>C
ENST00000479614.1:c.1020T>C
ENST00000493220.5:n.3040T>C
ENST00000579081.5:c.4606T>C ENSP00000462408.1:p.Ser1536Pro
NM_000267.3:c.4504T>C , LRG_214t1:c.4504T>C NP_000258.1:p.Ser1502Pro
NM_001042492.2:c.4567T>C , LRG_214t2:c.4567T>C NP_001035957.1:p.Ser1523Pro
XM_005257983.1:c.4567T>C XP_005258040.1:p.Ser1523Pro
XM_005257984.1:c.4504T>C XP_005258041.1:p.Ser1502Pro
XM_006721922.1:c.4597T>C XP_006721985.1:p.Ser1533Pro
XM_006721923.2:c.4558T>C XP_006721986.1:p.Ser1520Pro
XM_006721924.1:c.4597T>C XP_006721987.1:p.Ser1533Pro
XM_006721925.1:c.4534T>C XP_006721988.1:p.Ser1512Pro
XM_006721926.2:c.4597T>C XP_006721989.1:p.Ser1533Pro
XM_006721927.1:c.4597T>C XP_006721990.1:p.Ser1533Pro
XM_006721928.2:c.4597T>C XP_006721991.1:p.Ser1533Pro
XM_011524852.1:c.4594T>C XP_011523154.1:p.Ser1532Pro
XM_011524853.1:c.4558T>C XP_011523155.1:p.Ser1520Pro
XM_011524854.1:c.4558T>C XP_011523156.1:p.Ser1520Pro
XM_011524855.1:c.4558T>C XP_011523157.1:p.Ser1520Pro
XM_011524856.1:c.4558T>C XP_011523158.1:p.Ser1520Pro
XM_011524857.1:c.4597T>C XP_011523159.1:p.Ser1533Pro
NM_001042492.3:c.4567T>C MANE Select NP_001035957.1:p.Ser1523Pro