Canonical Allele Identifier: CA251473
Gene: NF1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371
dbSNP Id: rs137854564

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31235630T>C , CM000679.2:g.31235630T>C GRCh38
NC_000017.10:g.29562648T>C , CM000679.1:g.29562648T>C GRCh37
NC_000017.9:g.26586774T>C NCBI36
NG_009018.1:g.145654T>C , LRG_214:g.145654T>C

Transcript Alleles

HGVS Amino-acid change
NM_000267.3:c.3728T>C , LRG_214t1:c.3728T>C NP_000258.1:p.Leu1243Pro
NM_001042492.2:c.3728T>C , LRG_214t2:c.3728T>C NP_001035957.1:p.Leu1243Pro
XM_005257983.1:c.3728T>C XP_005258040.1:p.Leu1243Pro
XM_005257984.1:c.3728T>C XP_005258041.1:p.Leu1243Pro
XM_006721922.1:c.3758T>C XP_006721985.1:p.Leu1253Pro
XM_006721923.2:c.3719T>C XP_006721986.1:p.Leu1240Pro
XM_006721924.1:c.3758T>C XP_006721987.1:p.Leu1253Pro
XM_006721925.1:c.3758T>C XP_006721988.1:p.Leu1253Pro
XM_006721926.2:c.3758T>C XP_006721989.1:p.Leu1253Pro
XM_006721927.1:c.3758T>C XP_006721990.1:p.Leu1253Pro
XM_006721928.2:c.3758T>C XP_006721991.1:p.Leu1253Pro
XM_011524852.1:c.3755T>C XP_011523154.1:p.Leu1252Pro
XM_011524853.1:c.3719T>C XP_011523155.1:p.Leu1240Pro
XM_011524854.1:c.3719T>C XP_011523156.1:p.Leu1240Pro
XM_011524855.1:c.3719T>C XP_011523157.1:p.Leu1240Pro
XM_011524856.1:c.3719T>C XP_011523158.1:p.Leu1240Pro
XM_011524857.1:c.3758T>C XP_011523159.1:p.Leu1253Pro
ENST00000356175.7:c.3728T>C ENSP00000348498.3:p.Leu1243Pro
ENST00000358273.8:c.3728T>C ENSP00000351015.4:p.Leu1243Pro
ENST00000456735.6:n.2726T>C ENSP00000389907.2:p.Leu909Pro
ENST00000466819.5:n.204T>C
ENST00000479614.1:n.204T>C
ENST00000493220.5:n.2264T>C
ENST00000495910.6:n.3503T>C
ENST00000579081.5:n.3830T>C ENSP00000462408.1:p.Leu1277Pro