Canonical Allele Identifier: CA399000509
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1046281
ClinVar RCV Id: RCV001350820
dbSNP Id: rs2067691723

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261816C>G , CM000679.2:g.31261816C>G GRCh38
NC_000017.10:g.29588834C>G , CM000679.1:g.29588834C>G GRCh37
NC_000017.9:g.26612960C>G NCBI36
NG_009018.1:g.171840C>G , LRG_214:g.171840C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.485C>G ENSP00000492721.2:p.Ala162Gly
ENST00000696138.1:c.4665C>G ENSP00000512431.1:p.Ser1555Arg
ENST00000696140.1:n.789C>G
ENST00000696141.1:c.674C>G
ENST00000687863.1:n.1328C>G
ENST00000691014.1:c.4713C>G ENSP00000510595.1:p.Ser1571Arg
ENST00000358273.9:c.4683C>G MANE Select ENSP00000351015.4:p.Ser1561Arg
ENST00000356175.7:c.4620C>G ENSP00000348498.3:p.Ser1540Arg
ENST00000358273.8:c.4683C>G ENSP00000351015.4:p.Ser1561Arg
ENST00000456735.6:c.3618C>G ENSP00000389907.2:p.Ser1206Arg
ENST00000493220.5:n.3156C>G
ENST00000579081.5:c.4722C>G ENSP00000462408.1:p.Ser1574Arg
NM_000267.3:c.4620C>G , LRG_214t1:c.4620C>G NP_000258.1:p.Ser1540Arg
NM_001042492.2:c.4683C>G , LRG_214t2:c.4683C>G NP_001035957.1:p.Ser1561Arg
XM_005257983.1:c.4683C>G XP_005258040.1:p.Ser1561Arg
XM_005257984.1:c.4620C>G XP_005258041.1:p.Ser1540Arg
XM_006721922.1:c.4713C>G XP_006721985.1:p.Ser1571Arg
XM_006721923.2:c.4674C>G XP_006721986.1:p.Ser1558Arg
XM_006721924.1:c.4713C>G XP_006721987.1:p.Ser1571Arg
XM_006721925.1:c.4650C>G XP_006721988.1:p.Ser1550Arg
XM_006721926.2:c.4713C>G XP_006721989.1:p.Ser1571Arg
XM_006721927.1:c.4713C>G XP_006721990.1:p.Ser1571Arg
XM_006721928.2:c.4713C>G XP_006721991.1:p.Ser1571Arg
XM_011524852.1:c.4710C>G XP_011523154.1:p.Ser1570Arg
XM_011524853.1:c.4674C>G XP_011523155.1:p.Ser1558Arg
XM_011524854.1:c.4674C>G XP_011523156.1:p.Ser1558Arg
XM_011524855.1:c.4674C>G XP_011523157.1:p.Ser1558Arg
XM_011524856.1:c.4674C>G XP_011523158.1:p.Ser1558Arg
XM_011524857.1:c.4713C>G XP_011523159.1:p.Ser1571Arg
NM_001042492.3:c.4683C>G MANE Select NP_001035957.1:p.Ser1561Arg