Canonical Allele Identifier: CA398984992
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 863165
ClinVar RCV Id: RCV001070068
dbSNP Id: rs199474786
COSMIC: COSM3769763 COSM3769764
MyVariant Identifiers: chr17:g.29556326T>G (hg19) chr17:g.31229308T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31229308T>G , CM000679.2:g.31229308T>G GRCh38
NC_000017.10:g.29556326T>G , CM000679.1:g.29556326T>G GRCh37
NC_000017.9:g.26580452T>G NCBI36
NG_009018.1:g.139332T>G , LRG_214:g.139332T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.2738T>G ENSP00000512431.1:p.Leu913Arg
ENST00000696139.1:c.38T>G ENSP00000512432.1:p.Leu13Arg
ENST00000691014.1:c.2723T>G ENSP00000510595.1:p.Leu908Arg
ENST00000358273.9:c.2693T>G MANE Select ENSP00000351015.4:p.Leu898Arg
ENST00000356175.7:c.2693T>G ENSP00000348498.3:p.Leu898Arg
ENST00000358273.8:c.2693T>G ENSP00000351015.4:p.Leu898Arg
ENST00000456735.6:c.1691T>G ENSP00000389907.2:p.Leu564Arg
ENST00000493220.5:n.860T>G
ENST00000495910.6:c.2468T>G
ENST00000579081.5:c.2795T>G ENSP00000462408.1:p.Leu932Arg
NM_000267.3:c.2693T>G , LRG_214t1:c.2693T>G NP_000258.1:p.Leu898Arg
NM_001042492.2:c.2693T>G , LRG_214t2:c.2693T>G NP_001035957.1:p.Leu898Arg
XM_005257983.1:c.2693T>G XP_005258040.1:p.Leu898Arg
XM_005257984.1:c.2693T>G XP_005258041.1:p.Leu898Arg
XM_006721922.1:c.2723T>G XP_006721985.1:p.Leu908Arg
XM_006721923.2:c.2684T>G XP_006721986.1:p.Leu895Arg
XM_006721924.1:c.2723T>G XP_006721987.1:p.Leu908Arg
XM_006721925.1:c.2723T>G XP_006721988.1:p.Leu908Arg
XM_006721926.2:c.2723T>G XP_006721989.1:p.Leu908Arg
XM_006721927.1:c.2723T>G XP_006721990.1:p.Leu908Arg
XM_006721928.2:c.2723T>G XP_006721991.1:p.Leu908Arg
XM_011524852.1:c.2720T>G XP_011523154.1:p.Leu907Arg
XM_011524853.1:c.2684T>G XP_011523155.1:p.Leu895Arg
XM_011524854.1:c.2684T>G XP_011523156.1:p.Leu895Arg
XM_011524855.1:c.2684T>G XP_011523157.1:p.Leu895Arg
XM_011524856.1:c.2684T>G XP_011523158.1:p.Leu895Arg
XM_011524857.1:c.2723T>G XP_011523159.1:p.Leu908Arg
NM_001042492.3:c.2693T>G MANE Select NP_001035957.1:p.Leu898Arg
Search 100 bp 5'
Search 100 bp 3'