Canonical Allele Identifier: CA399001298
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1742692
ClinVar RCV Id: RCV002335442
dbSNP Id: rs2067766230

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265294G>A , CM000679.2:g.31265294G>A GRCh38
NC_000017.10:g.29592312G>A , CM000679.1:g.29592312G>A GRCh37
NC_000017.9:g.26616438G>A NCBI36
NG_009018.1:g.175318G>A , LRG_214:g.175318G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.592G>A ENSP00000492721.2:n.592G>A
ENST00000696138.1:c.4772G>A ENSP00000512431.1:p.Gly1591Glu
ENST00000696140.1:n.896G>A
ENST00000696141.1:c.781G>A
ENST00000687863.1:n.1435G>A
ENST00000691014.1:c.4820G>A ENSP00000510595.1:p.Gly1607Glu
ENST00000358273.9:c.4790G>A MANE Select ENSP00000351015.4:p.Gly1597Glu
ENST00000356175.7:c.4727G>A ENSP00000348498.3:p.Gly1576Glu
ENST00000358273.8:c.4790G>A ENSP00000351015.4:p.Gly1597Glu
ENST00000456735.6:c.3725G>A ENSP00000389907.2:p.Gly1242Glu
ENST00000493220.5:n.3263G>A
ENST00000579081.5:c.4829G>A ENSP00000462408.1:p.Gly1610Glu
NM_000267.3:c.4727G>A , LRG_214t1:c.4727G>A NP_000258.1:p.Gly1576Glu
NM_001042492.2:c.4790G>A , LRG_214t2:c.4790G>A NP_001035957.1:p.Gly1597Glu
XM_005257983.1:c.4790G>A XP_005258040.1:p.Gly1597Glu
XM_005257984.1:c.4727G>A XP_005258041.1:p.Gly1576Glu
XM_006721922.1:c.4820G>A XP_006721985.1:p.Gly1607Glu
XM_006721923.2:c.4781G>A XP_006721986.1:p.Gly1594Glu
XM_006721924.1:c.4820G>A XP_006721987.1:p.Gly1607Glu
XM_006721925.1:c.4757G>A XP_006721988.1:p.Gly1586Glu
XM_006721926.2:c.4820G>A XP_006721989.1:p.Gly1607Glu
XM_006721927.1:c.4820G>A XP_006721990.1:p.Gly1607Glu
XM_006721928.2:c.4820G>A XP_006721991.1:p.Gly1607Glu
XM_011524852.1:c.4817G>A XP_011523154.1:p.Gly1606Glu
XM_011524853.1:c.4781G>A XP_011523155.1:p.Gly1594Glu
XM_011524854.1:c.4781G>A XP_011523156.1:p.Gly1594Glu
XM_011524855.1:c.4781G>A XP_011523157.1:p.Gly1594Glu
XM_011524856.1:c.4781G>A XP_011523158.1:p.Gly1594Glu
XM_011524857.1:c.4820G>A XP_011523159.1:p.Gly1607Glu
NM_001042492.3:c.4790G>A MANE Select NP_001035957.1:p.Gly1597Glu