Canonical Allele Identifier: CA399010982
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 488817
dbSNP Id: rs1555534433

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31335032G>A , CM000679.2:g.31335032G>A GRCh38
NC_000017.10:g.29662050G>A , CM000679.1:g.29662050G>A GRCh37
NC_000017.9:g.26686176G>A NCBI36
NG_009018.1:g.245056G>A , LRG_214:g.245056G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.2194+1G>A ENSP00000492721.2:n.2194+1G>A
ENST00000696138.1:c.5988+1G>A ENSP00000512431.1:n.5988+1G>A
ENST00000684826.1:c.570+1G>A ENSP00000509994.1:n.570+1G>A
ENST00000687027.1:c.162+1G>A ENSP00000508715.1:n.162+1G>A
ENST00000687863.1:n.2651+1G>A
ENST00000691014.1:c.6036+1G>A ENSP00000510595.1:n.6036+1G>A
ENST00000693617.1:c.570+1G>A ENSP00000510031.1:n.570+1G>A
ENST00000358273.9:c.6006+1G>A MANE Select ENSP00000351015.4:n.6006+1G>A
ENST00000356175.7:c.5943+1G>A ENSP00000348498.3:n.5943+1G>A
ENST00000358273.8:c.6006+1G>A ENSP00000351015.4:n.6006+1G>A
ENST00000456735.6:c.4941+1G>A ENSP00000389907.2:n.4941+1G>A
ENST00000479536.2:c.431+1G>A
ENST00000579081.5:c.6142+1G>A ENSP00000462408.1:n.6142+1G>A
ENST00000581113.6:n.1323+1G>A
NM_000267.3:c.5943+1G>A , LRG_214t1:c.5943+1G>A NP_000258.1:n.5943+1G>A
NM_001042492.2:c.6006+1G>A , LRG_214t2:c.6006+1G>A NP_001035957.1:n.6006+1G>A
XM_005257983.1:c.6006+1G>A XP_005258040.1:n.6006+1G>A
XM_005257984.1:c.5943+1G>A XP_005258041.1:n.5943+1G>A
XM_006721922.1:c.6036+1G>A XP_006721985.1:n.6036+1G>A
XM_006721923.2:c.5997+1G>A XP_006721986.1:n.5997+1G>A
XM_006721924.1:c.6036+1G>A XP_006721987.1:n.6036+1G>A
XM_006721925.1:c.5973+1G>A XP_006721988.1:n.5973+1G>A
XM_006721926.2:c.6036+1G>A XP_006721989.1:n.6036+1G>A
XM_006721927.1:c.6036+1G>A XP_006721990.1:n.6036+1G>A
XM_011524852.1:c.6033+1G>A XP_011523154.1:n.6033+1G>A
XM_011524853.1:c.5997+1G>A XP_011523155.1:n.5997+1G>A
XM_011524854.1:c.5997+1G>A XP_011523156.1:n.5997+1G>A
XM_011524855.1:c.5997+1G>A XP_011523157.1:n.5997+1G>A
XM_011524856.1:c.5997+1G>A XP_011523158.1:n.5997+1G>A
XM_011524857.1:c.6036+1G>A XP_011523159.1:n.6036+1G>A
NM_001042492.3:c.6006+1G>A MANE Select NP_001035957.1:n.6006+1G>A