Canonical Allele Identifier: CA398999884
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 941548
ClinVar RCV Id: RCV001211346
dbSNP Id: rs1555618859

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31260498G>T , CM000679.2:g.31260498G>T GRCh38
NC_000017.10:g.29587516G>T , CM000679.1:g.29587516G>T GRCh37
NC_000017.9:g.26611642G>T NCBI36
NG_009018.1:g.170522G>T , LRG_214:g.170522G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.348G>T ENSP00000492721.2:p.Gln116His
ENST00000696138.1:c.4542G>T ENSP00000512431.1:p.Gln1514His
ENST00000696140.1:n.666G>T
ENST00000696141.1:c.551G>T
ENST00000687863.1:n.1205G>T
ENST00000691014.1:c.4590G>T ENSP00000510595.1:p.Gln1530His
ENST00000691649.1:n.1771G>T
ENST00000358273.9:c.4560G>T MANE Select ENSP00000351015.4:p.Gln1520His
ENST00000356175.7:c.4497G>T ENSP00000348498.3:p.Gln1499His
ENST00000358273.8:c.4560G>T ENSP00000351015.4:p.Gln1520His
ENST00000456735.6:c.3495G>T ENSP00000389907.2:p.Gln1165His
ENST00000466819.5:c.1076G>T
ENST00000479614.1:c.1013G>T
ENST00000493220.5:n.3033G>T
ENST00000579081.5:c.4599G>T ENSP00000462408.1:p.Gln1533His
NM_000267.3:c.4497G>T , LRG_214t1:c.4497G>T NP_000258.1:p.Gln1499His
NM_001042492.2:c.4560G>T , LRG_214t2:c.4560G>T NP_001035957.1:p.Gln1520His
XM_005257983.1:c.4560G>T XP_005258040.1:p.Gln1520His
XM_005257984.1:c.4497G>T XP_005258041.1:p.Gln1499His
XM_006721922.1:c.4590G>T XP_006721985.1:p.Gln1530His
XM_006721923.2:c.4551G>T XP_006721986.1:p.Gln1517His
XM_006721924.1:c.4590G>T XP_006721987.1:p.Gln1530His
XM_006721925.1:c.4527G>T XP_006721988.1:p.Gln1509His
XM_006721926.2:c.4590G>T XP_006721989.1:p.Gln1530His
XM_006721927.1:c.4590G>T XP_006721990.1:p.Gln1530His
XM_006721928.2:c.4590G>T XP_006721991.1:p.Gln1530His
XM_011524852.1:c.4587G>T XP_011523154.1:p.Gln1529His
XM_011524853.1:c.4551G>T XP_011523155.1:p.Gln1517His
XM_011524854.1:c.4551G>T XP_011523156.1:p.Gln1517His
XM_011524855.1:c.4551G>T XP_011523157.1:p.Gln1517His
XM_011524856.1:c.4551G>T XP_011523158.1:p.Gln1517His
XM_011524857.1:c.4590G>T XP_011523159.1:p.Gln1530His
NM_001042492.3:c.4560G>T MANE Select NP_001035957.1:p.Gln1520His