Canonical Allele Identifier: CA16043023
Gene: NF1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373285
dbSNP Id: rs1057518326

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31325819G>A , CM000679.2:g.31325819G>A GRCh38
NC_000017.10:g.29652837G>A , CM000679.1:g.29652837G>A GRCh37
NC_000017.9:g.26676963G>A NCBI36
NG_009018.1:g.235843G>A , LRG_214:g.235843G>A

Transcript Alleles

HGVS Amino-acid change
NM_000267.3:c.4773-1G>A , LRG_214t1:c.4773-1G>A NP_000258.1:p.=
NM_001042492.2:c.4836-1G>A , LRG_214t2:c.4836-1G>A NP_001035957.1:p.=
XM_005257983.1:c.4836-1G>A XP_005258040.1:p.=
XM_005257984.1:c.4773-1G>A XP_005258041.1:p.=
XM_006721922.1:c.4866-1G>A XP_006721985.1:p.=
XM_006721923.2:c.4827-1G>A XP_006721986.1:p.=
XM_006721924.1:c.4866-1G>A XP_006721987.1:p.=
XM_006721925.1:c.4803-1G>A XP_006721988.1:p.=
XM_006721926.2:c.4866-1G>A XP_006721989.1:p.=
XM_006721927.1:c.4866-1G>A XP_006721990.1:p.=
XM_011524852.1:c.4863-1G>A XP_011523154.1:p.=
XM_011524853.1:c.4827-1G>A XP_011523155.1:p.=
XM_011524854.1:c.4827-1G>A XP_011523156.1:p.=
XM_011524855.1:c.4827-1G>A XP_011523157.1:p.=
XM_011524856.1:c.4827-1G>A XP_011523158.1:p.=
XM_011524857.1:c.4866-1G>A XP_011523159.1:p.=
ENST00000356175.7:c.4773-1G>A ENSP00000348498.3:p.=
ENST00000358273.8:c.4836-1G>A ENSP00000351015.4:p.=
ENST00000456735.6:n.3771-1G>A ENSP00000389907.2:p.=
ENST00000493220.5:n.3309-1G>A
ENST00000579081.5:n.4972-1G>A ENSP00000462408.1:p.=
ENST00000581113.6:n.153-1G>A