Canonical Allele Identifier: CA399001285
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1461215
ClinVar RCV Id: RCV001965747
dbSNP Id: rs2151470206

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265288A>G , CM000679.2:g.31265288A>G GRCh38
NC_000017.10:g.29592306A>G , CM000679.1:g.29592306A>G GRCh37
NC_000017.9:g.26616432A>G NCBI36
NG_009018.1:g.175312A>G , LRG_214:g.175312A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.586A>G ENSP00000492721.2:n.586A>G
ENST00000696138.1:c.4766A>G ENSP00000512431.1:p.Gln1589Arg
ENST00000696140.1:n.890A>G
ENST00000696141.1:c.775A>G
ENST00000687863.1:n.1429A>G
ENST00000691014.1:c.4814A>G ENSP00000510595.1:p.Gln1605Arg
ENST00000358273.9:c.4784A>G MANE Select ENSP00000351015.4:p.Gln1595Arg
ENST00000356175.7:c.4721A>G ENSP00000348498.3:p.Gln1574Arg
ENST00000358273.8:c.4784A>G ENSP00000351015.4:p.Gln1595Arg
ENST00000456735.6:c.3719A>G ENSP00000389907.2:p.Gln1240Arg
ENST00000493220.5:n.3257A>G
ENST00000579081.5:c.4823A>G ENSP00000462408.1:p.Gln1608Arg
NM_000267.3:c.4721A>G , LRG_214t1:c.4721A>G NP_000258.1:p.Gln1574Arg
NM_001042492.2:c.4784A>G , LRG_214t2:c.4784A>G NP_001035957.1:p.Gln1595Arg
XM_005257983.1:c.4784A>G XP_005258040.1:p.Gln1595Arg
XM_005257984.1:c.4721A>G XP_005258041.1:p.Gln1574Arg
XM_006721922.1:c.4814A>G XP_006721985.1:p.Gln1605Arg
XM_006721923.2:c.4775A>G XP_006721986.1:p.Gln1592Arg
XM_006721924.1:c.4814A>G XP_006721987.1:p.Gln1605Arg
XM_006721925.1:c.4751A>G XP_006721988.1:p.Gln1584Arg
XM_006721926.2:c.4814A>G XP_006721989.1:p.Gln1605Arg
XM_006721927.1:c.4814A>G XP_006721990.1:p.Gln1605Arg
XM_006721928.2:c.4814A>G XP_006721991.1:p.Gln1605Arg
XM_011524852.1:c.4811A>G XP_011523154.1:p.Gln1604Arg
XM_011524853.1:c.4775A>G XP_011523155.1:p.Gln1592Arg
XM_011524854.1:c.4775A>G XP_011523156.1:p.Gln1592Arg
XM_011524855.1:c.4775A>G XP_011523157.1:p.Gln1592Arg
XM_011524856.1:c.4775A>G XP_011523158.1:p.Gln1592Arg
XM_011524857.1:c.4814A>G XP_011523159.1:p.Gln1605Arg
NM_001042492.3:c.4784A>G MANE Select NP_001035957.1:p.Gln1595Arg