Canonical Allele Identifier: CA212556
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 369
ClinVar RCV Id: RCV000000400
dbSNP Id: rs267606610

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31343138A>C , CM000679.2:g.31343138A>C GRCh38
NC_000017.10:g.29670156A>C , CM000679.1:g.29670156A>C GRCh37
NC_000017.9:g.26694282A>C NCBI36
NG_009018.1:g.253162A>C , LRG_214:g.253162A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.7171+3A>C ENSP00000512431.1:n.7171+3A>C
ENST00000684826.1:c.1753+3A>C ENSP00000509994.1:n.1753+3A>C
ENST00000687027.1:c.1345+3A>C ENSP00000508715.1:n.1345+3A>C
ENST00000687863.1:n.3834+3A>C
ENST00000689464.1:c.128+3A>C
ENST00000691014.1:c.7219+3A>C ENSP00000510595.1:n.7219+3A>C
ENST00000693617.1:c.1753+3A>C ENSP00000510031.1:n.1753+3A>C
ENST00000358273.9:c.7189+3A>C MANE Select ENSP00000351015.4:n.7189+3A>C
ENST00000356175.7:c.7126+3A>C ENSP00000348498.3:n.7126+3A>C
ENST00000358273.8:c.7189+3A>C ENSP00000351015.4:n.7189+3A>C
ENST00000456735.6:c.6124+3A>C ENSP00000389907.2:n.6124+3A>C
ENST00000471572.6:c.572+3A>C
ENST00000579081.5:c.7325+3A>C ENSP00000462408.1:n.7325+3A>C
ENST00000581790.5:c.332+3A>C
ENST00000582892.1:n.431+3A>C
NM_000267.3:c.7126+3A>C , LRG_214t1:c.7126+3A>C NP_000258.1:n.7126+3A>C
NM_001042492.2:c.7189+3A>C , LRG_214t2:c.7189+3A>C NP_001035957.1:n.7189+3A>C
XM_005257983.1:c.7189+3A>C XP_005258040.1:n.7189+3A>C
XM_005257984.1:c.7126+3A>C XP_005258041.1:n.7126+3A>C
XM_006721922.1:c.7219+3A>C XP_006721985.1:n.7219+3A>C
XM_006721923.2:c.7180+3A>C XP_006721986.1:n.7180+3A>C
XM_006721924.1:c.7219+3A>C XP_006721987.1:n.7219+3A>C
XM_006721925.1:c.7156+3A>C XP_006721988.1:n.7156+3A>C
XM_006721926.2:c.7219+3A>C XP_006721989.1:n.7219+3A>C
XM_006721927.1:c.7219+3A>C XP_006721990.1:n.7219+3A>C
XM_011524852.1:c.7216+3A>C XP_011523154.1:n.7216+3A>C
XM_011524853.1:c.7180+3A>C XP_011523155.1:n.7180+3A>C
XM_011524854.1:c.7180+3A>C XP_011523156.1:n.7180+3A>C
XM_011524855.1:c.7180+3A>C XP_011523157.1:n.7180+3A>C
XM_011524856.1:c.7180+3A>C XP_011523158.1:n.7180+3A>C
XM_011524857.1:c.7219+3A>C XP_011523159.1:n.7219+3A>C
NM_001042492.3:c.7189+3A>C MANE Select NP_001035957.1:n.7189+3A>C