Canonical Allele Identifier: CA399009069
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428982
dbSNP Id: rs1131691103

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31327541A>G , CM000679.2:g.31327541A>G GRCh38
NC_000017.10:g.29654559A>G , CM000679.1:g.29654559A>G GRCh37
NC_000017.9:g.26678685A>G NCBI36
NG_009018.1:g.237565A>G , LRG_214:g.237565A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.1499A>G ENSP00000492721.2:n.1499A>G
ENST00000696138.1:c.5293A>G ENSP00000512431.1:p.Lys1765Glu
ENST00000684826.1:c.-126A>G ENSP00000509994.1:n.-126A>G
ENST00000687027.1:c.-236+1289A>G ENSP00000508715.1:n.-236+1289A>G
ENST00000687863.1:n.1956A>G
ENST00000691014.1:c.5341A>G ENSP00000510595.1:p.Lys1781Glu
ENST00000693617.1:c.-126A>G ENSP00000510031.1:n.-126A>G
ENST00000358273.9:c.5311A>G MANE Select ENSP00000351015.4:p.Lys1771Glu
ENST00000356175.7:c.5248A>G ENSP00000348498.3:p.Lys1750Glu
ENST00000358273.8:c.5311A>G ENSP00000351015.4:p.Lys1771Glu
ENST00000456735.6:c.4246A>G ENSP00000389907.2:p.Lys1416Glu
ENST00000493220.5:n.3784A>G
ENST00000579081.5:c.5447A>G ENSP00000462408.1:n.5447A>G
ENST00000581113.6:n.628A>G
NM_000267.3:c.5248A>G , LRG_214t1:c.5248A>G NP_000258.1:p.Lys1750Glu
NM_001042492.2:c.5311A>G , LRG_214t2:c.5311A>G NP_001035957.1:p.Lys1771Glu
XM_005257983.1:c.5311A>G XP_005258040.1:p.Lys1771Glu
XM_005257984.1:c.5248A>G XP_005258041.1:p.Lys1750Glu
XM_006721922.1:c.5341A>G XP_006721985.1:p.Lys1781Glu
XM_006721923.2:c.5302A>G XP_006721986.1:p.Lys1768Glu
XM_006721924.1:c.5341A>G XP_006721987.1:p.Lys1781Glu
XM_006721925.1:c.5278A>G XP_006721988.1:p.Lys1760Glu
XM_006721926.2:c.5341A>G XP_006721989.1:p.Lys1781Glu
XM_006721927.1:c.5341A>G XP_006721990.1:p.Lys1781Glu
XM_011524852.1:c.5338A>G XP_011523154.1:p.Lys1780Glu
XM_011524853.1:c.5302A>G XP_011523155.1:p.Lys1768Glu
XM_011524854.1:c.5302A>G XP_011523156.1:p.Lys1768Glu
XM_011524855.1:c.5302A>G XP_011523157.1:p.Lys1768Glu
XM_011524856.1:c.5302A>G XP_011523158.1:p.Lys1768Glu
XM_011524857.1:c.5341A>G XP_011523159.1:p.Lys1781Glu
NM_001042492.3:c.5311A>G MANE Select NP_001035957.1:p.Lys1771Glu