Canonical Allele Identifier: CA399000467
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151466418

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261807C>G , CM000679.2:g.31261807C>G GRCh38
NC_000017.10:g.29588825C>G , CM000679.1:g.29588825C>G GRCh37
NC_000017.9:g.26612951C>G NCBI36
NG_009018.1:g.171831C>G , LRG_214:g.171831C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.476C>G ENSP00000492721.2:p.Thr159Ser
ENST00000696138.1:c.4656C>G ENSP00000512431.1:p.His1552Gln
ENST00000696140.1:n.780C>G
ENST00000696141.1:c.665C>G
ENST00000687863.1:n.1319C>G
ENST00000691014.1:c.4704C>G ENSP00000510595.1:p.His1568Gln
ENST00000358273.9:c.4674C>G MANE Select ENSP00000351015.4:p.His1558Gln
ENST00000356175.7:c.4611C>G ENSP00000348498.3:p.His1537Gln
ENST00000358273.8:c.4674C>G ENSP00000351015.4:p.His1558Gln
ENST00000456735.6:c.3609C>G ENSP00000389907.2:p.His1203Gln
ENST00000493220.5:n.3147C>G
ENST00000579081.5:c.4713C>G ENSP00000462408.1:p.His1571Gln
NM_000267.3:c.4611C>G , LRG_214t1:c.4611C>G NP_000258.1:p.His1537Gln
NM_001042492.2:c.4674C>G , LRG_214t2:c.4674C>G NP_001035957.1:p.His1558Gln
XM_005257983.1:c.4674C>G XP_005258040.1:p.His1558Gln
XM_005257984.1:c.4611C>G XP_005258041.1:p.His1537Gln
XM_006721922.1:c.4704C>G XP_006721985.1:p.His1568Gln
XM_006721923.2:c.4665C>G XP_006721986.1:p.His1555Gln
XM_006721924.1:c.4704C>G XP_006721987.1:p.His1568Gln
XM_006721925.1:c.4641C>G XP_006721988.1:p.His1547Gln
XM_006721926.2:c.4704C>G XP_006721989.1:p.His1568Gln
XM_006721927.1:c.4704C>G XP_006721990.1:p.His1568Gln
XM_006721928.2:c.4704C>G XP_006721991.1:p.His1568Gln
XM_011524852.1:c.4701C>G XP_011523154.1:p.His1567Gln
XM_011524853.1:c.4665C>G XP_011523155.1:p.His1555Gln
XM_011524854.1:c.4665C>G XP_011523156.1:p.His1555Gln
XM_011524855.1:c.4665C>G XP_011523157.1:p.His1555Gln
XM_011524856.1:c.4665C>G XP_011523158.1:p.His1555Gln
XM_011524857.1:c.4704C>G XP_011523159.1:p.His1568Gln
NM_001042492.3:c.4674C>G MANE Select NP_001035957.1:p.His1558Gln