Canonical Allele Identifier: CA10639326
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 322574
dbSNP Id: rs876660089

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31260468A>G , CM000679.2:g.31260468A>G GRCh38
NC_000017.10:g.29587486A>G , CM000679.1:g.29587486A>G GRCh37
NC_000017.9:g.26611612A>G NCBI36
NG_009018.1:g.170492A>G , LRG_214:g.170492A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.318A>G ENSP00000492721.2:p.Leu106=
ENST00000696138.1:c.4512A>G ENSP00000512431.1:p.Leu1504=
ENST00000696140.1:n.636A>G
ENST00000696141.1:c.521A>G
ENST00000687863.1:n.1175A>G
ENST00000691014.1:c.4560A>G ENSP00000510595.1:p.Leu1520=
ENST00000691649.1:n.1741A>G
ENST00000358273.9:c.4530A>G MANE Select ENSP00000351015.4:p.Leu1510=
ENST00000356175.7:c.4467A>G ENSP00000348498.3:p.Leu1489=
ENST00000358273.8:c.4530A>G ENSP00000351015.4:p.Leu1510=
ENST00000456735.6:c.3465A>G ENSP00000389907.2:p.Leu1155=
ENST00000466819.5:c.1046A>G
ENST00000479614.1:c.983A>G
ENST00000493220.5:n.3003A>G
ENST00000579081.5:c.4569A>G ENSP00000462408.1:p.Leu1523=
NM_000267.3:c.4467A>G , LRG_214t1:c.4467A>G NP_000258.1:p.Leu1489=
NM_001042492.2:c.4530A>G , LRG_214t2:c.4530A>G NP_001035957.1:p.Leu1510=
XM_005257983.1:c.4530A>G XP_005258040.1:p.Leu1510=
XM_005257984.1:c.4467A>G XP_005258041.1:p.Leu1489=
XM_006721922.1:c.4560A>G XP_006721985.1:p.Leu1520=
XM_006721923.2:c.4521A>G XP_006721986.1:p.Leu1507=
XM_006721924.1:c.4560A>G XP_006721987.1:p.Leu1520=
XM_006721925.1:c.4497A>G XP_006721988.1:p.Leu1499=
XM_006721926.2:c.4560A>G XP_006721989.1:p.Leu1520=
XM_006721927.1:c.4560A>G XP_006721990.1:p.Leu1520=
XM_006721928.2:c.4560A>G XP_006721991.1:p.Leu1520=
XM_011524852.1:c.4557A>G XP_011523154.1:p.Leu1519=
XM_011524853.1:c.4521A>G XP_011523155.1:p.Leu1507=
XM_011524854.1:c.4521A>G XP_011523156.1:p.Leu1507=
XM_011524855.1:c.4521A>G XP_011523157.1:p.Leu1507=
XM_011524856.1:c.4521A>G XP_011523158.1:p.Leu1507=
XM_011524857.1:c.4560A>G XP_011523159.1:p.Leu1520=
NM_001042492.3:c.4530A>G MANE Select NP_001035957.1:p.Leu1510=