Canonical Allele Identifier: CA10580329
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 231506
dbSNP Id: rs876659197

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265336G>A , CM000679.2:g.31265336G>A GRCh38
NC_000017.10:g.29592354G>A , CM000679.1:g.29592354G>A GRCh37
NC_000017.9:g.26616480G>A NCBI36
NG_009018.1:g.175360G>A , LRG_214:g.175360G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.634G>A ENSP00000492721.2:n.634G>A
ENST00000696138.1:c.4814G>A ENSP00000512431.1:p.Arg1605Gln
ENST00000696140.1:n.938G>A
ENST00000696141.1:c.823G>A
ENST00000687863.1:n.1477G>A
ENST00000691014.1:c.4862G>A ENSP00000510595.1:p.Arg1621Gln
ENST00000358273.9:c.4832G>A MANE Select ENSP00000351015.4:p.Arg1611Gln
ENST00000356175.7:c.4769G>A ENSP00000348498.3:p.Arg1590Gln
ENST00000358273.8:c.4832G>A ENSP00000351015.4:p.Arg1611Gln
ENST00000456735.6:c.3767G>A ENSP00000389907.2:p.Arg1256Gln
ENST00000493220.5:n.3305G>A
ENST00000579081.5:c.4871G>A ENSP00000462408.1:p.Arg1624Gln
NM_000267.3:c.4769G>A , LRG_214t1:c.4769G>A NP_000258.1:p.Arg1590Gln
NM_001042492.2:c.4832G>A , LRG_214t2:c.4832G>A NP_001035957.1:p.Arg1611Gln
XM_005257983.1:c.4832G>A XP_005258040.1:p.Arg1611Gln
XM_005257984.1:c.4769G>A XP_005258041.1:p.Arg1590Gln
XM_006721922.1:c.4862G>A XP_006721985.1:p.Arg1621Gln
XM_006721923.2:c.4823G>A XP_006721986.1:p.Arg1608Gln
XM_006721924.1:c.4862G>A XP_006721987.1:p.Arg1621Gln
XM_006721925.1:c.4799G>A XP_006721988.1:p.Arg1600Gln
XM_006721926.2:c.4862G>A XP_006721989.1:p.Arg1621Gln
XM_006721927.1:c.4862G>A XP_006721990.1:p.Arg1621Gln
XM_006721928.2:c.4862G>A XP_006721991.1:p.Arg1621Gln
XM_011524852.1:c.4859G>A XP_011523154.1:p.Arg1620Gln
XM_011524853.1:c.4823G>A XP_011523155.1:p.Arg1608Gln
XM_011524854.1:c.4823G>A XP_011523156.1:p.Arg1608Gln
XM_011524855.1:c.4823G>A XP_011523157.1:p.Arg1608Gln
XM_011524856.1:c.4823G>A XP_011523158.1:p.Arg1608Gln
XM_011524857.1:c.4862G>A XP_011523159.1:p.Arg1621Gln
NM_001042492.3:c.4832G>A MANE Select NP_001035957.1:p.Arg1611Gln