Canonical Allele Identifier: CA399000398
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 825025
ClinVar RCV Id: RCV002319359
dbSNP Id: rs1597748857

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261791C>G , CM000679.2:g.31261791C>G GRCh38
NC_000017.10:g.29588809C>G , CM000679.1:g.29588809C>G GRCh37
NC_000017.9:g.26612935C>G NCBI36
NG_009018.1:g.171815C>G , LRG_214:g.171815C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.460C>G ENSP00000492721.2:p.Leu154Val
ENST00000696138.1:c.4640C>G ENSP00000512431.1:p.Pro1547Arg
ENST00000696140.1:n.764C>G
ENST00000696141.1:c.649C>G
ENST00000687863.1:n.1303C>G
ENST00000691014.1:c.4688C>G ENSP00000510595.1:p.Pro1563Arg
ENST00000358273.9:c.4658C>G MANE Select ENSP00000351015.4:p.Pro1553Arg
ENST00000356175.7:c.4595C>G ENSP00000348498.3:p.Pro1532Arg
ENST00000358273.8:c.4658C>G ENSP00000351015.4:p.Pro1553Arg
ENST00000456735.6:c.3593C>G ENSP00000389907.2:p.Pro1198Arg
ENST00000466819.5:c.1174C>G
ENST00000479614.1:c.1111C>G
ENST00000493220.5:n.3131C>G
ENST00000579081.5:c.4697C>G ENSP00000462408.1:p.Pro1566Arg
NM_000267.3:c.4595C>G , LRG_214t1:c.4595C>G NP_000258.1:p.Pro1532Arg
NM_001042492.2:c.4658C>G , LRG_214t2:c.4658C>G NP_001035957.1:p.Pro1553Arg
XM_005257983.1:c.4658C>G XP_005258040.1:p.Pro1553Arg
XM_005257984.1:c.4595C>G XP_005258041.1:p.Pro1532Arg
XM_006721922.1:c.4688C>G XP_006721985.1:p.Pro1563Arg
XM_006721923.2:c.4649C>G XP_006721986.1:p.Pro1550Arg
XM_006721924.1:c.4688C>G XP_006721987.1:p.Pro1563Arg
XM_006721925.1:c.4625C>G XP_006721988.1:p.Pro1542Arg
XM_006721926.2:c.4688C>G XP_006721989.1:p.Pro1563Arg
XM_006721927.1:c.4688C>G XP_006721990.1:p.Pro1563Arg
XM_006721928.2:c.4688C>G XP_006721991.1:p.Pro1563Arg
XM_011524852.1:c.4685C>G XP_011523154.1:p.Pro1562Arg
XM_011524853.1:c.4649C>G XP_011523155.1:p.Pro1550Arg
XM_011524854.1:c.4649C>G XP_011523156.1:p.Pro1550Arg
XM_011524855.1:c.4649C>G XP_011523157.1:p.Pro1550Arg
XM_011524856.1:c.4649C>G XP_011523158.1:p.Pro1550Arg
XM_011524857.1:c.4688C>G XP_011523159.1:p.Pro1563Arg
NM_001042492.3:c.4658C>G MANE Select NP_001035957.1:p.Pro1553Arg