Canonical Allele Identifier: CA399001389
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 484155
dbSNP Id: rs1555619423

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265339G>A , CM000679.2:g.31265339G>A GRCh38
NC_000017.10:g.29592357G>A , CM000679.1:g.29592357G>A GRCh37
NC_000017.9:g.26616483G>A NCBI36
NG_009018.1:g.175363G>A , LRG_214:g.175363G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.637G>A ENSP00000492721.2:n.637G>A
ENST00000696138.1:c.4817G>A ENSP00000512431.1:p.Arg1606Lys
ENST00000696140.1:n.941G>A
ENST00000696141.1:c.826G>A
ENST00000687863.1:n.1480G>A
ENST00000691014.1:c.4865G>A ENSP00000510595.1:p.Arg1622Lys
ENST00000358273.9:c.4835G>A MANE Select ENSP00000351015.4:p.Arg1612Lys
ENST00000356175.7:c.4772G>A ENSP00000348498.3:p.Arg1591Lys
ENST00000358273.8:c.4835G>A ENSP00000351015.4:p.Arg1612Lys
ENST00000456735.6:c.3770G>A ENSP00000389907.2:p.Arg1257Lys
ENST00000493220.5:n.3308G>A
ENST00000579081.5:c.4874G>A ENSP00000462408.1:p.Arg1625Lys
NM_000267.3:c.4772G>A , LRG_214t1:c.4772G>A NP_000258.1:p.Arg1591Lys
NM_001042492.2:c.4835G>A , LRG_214t2:c.4835G>A NP_001035957.1:p.Arg1612Lys
XM_005257983.1:c.4835G>A XP_005258040.1:p.Arg1612Lys
XM_005257984.1:c.4772G>A XP_005258041.1:p.Arg1591Lys
XM_006721922.1:c.4865G>A XP_006721985.1:p.Arg1622Lys
XM_006721923.2:c.4826G>A XP_006721986.1:p.Arg1609Lys
XM_006721924.1:c.4865G>A XP_006721987.1:p.Arg1622Lys
XM_006721925.1:c.4802G>A XP_006721988.1:p.Arg1601Lys
XM_006721926.2:c.4865G>A XP_006721989.1:p.Arg1622Lys
XM_006721927.1:c.4865G>A XP_006721990.1:p.Arg1622Lys
XM_006721928.2:c.4865G>A XP_006721991.1:p.Arg1622Lys
XM_011524852.1:c.4862G>A XP_011523154.1:p.Arg1621Lys
XM_011524853.1:c.4826G>A XP_011523155.1:p.Arg1609Lys
XM_011524854.1:c.4826G>A XP_011523156.1:p.Arg1609Lys
XM_011524855.1:c.4826G>A XP_011523157.1:p.Arg1609Lys
XM_011524856.1:c.4826G>A XP_011523158.1:p.Arg1609Lys
XM_011524857.1:c.4865G>A XP_011523159.1:p.Arg1622Lys
NM_001042492.3:c.4835G>A MANE Select NP_001035957.1:p.Arg1612Lys