Canonical Allele Identifier: CA219481
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 68324
dbSNP Id: rs199474748

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31229158G>A , CM000679.2:g.31229158G>A GRCh38
NC_000017.10:g.29556176G>A , CM000679.1:g.29556176G>A GRCh37
NC_000017.9:g.26580302G>A NCBI36
NG_009018.1:g.139182G>A , LRG_214:g.139182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.2588G>A ENSP00000512431.1:p.Gly863Glu
ENST00000691014.1:c.2573G>A ENSP00000510595.1:p.Gly858Glu
ENST00000358273.9:c.2543G>A MANE Select ENSP00000351015.4:p.Gly848Glu
ENST00000356175.7:c.2543G>A ENSP00000348498.3:p.Gly848Glu
ENST00000358273.8:c.2543G>A ENSP00000351015.4:p.Gly848Glu
ENST00000456735.6:c.1541G>A ENSP00000389907.2:p.Gly514Glu
ENST00000493220.5:n.710G>A
ENST00000495910.6:c.2318G>A
ENST00000579081.5:c.2645G>A ENSP00000462408.1:p.Gly882Glu
NM_000267.3:c.2543G>A , LRG_214t1:c.2543G>A NP_000258.1:p.Gly848Glu
NM_001042492.2:c.2543G>A , LRG_214t2:c.2543G>A NP_001035957.1:p.Gly848Glu
XM_005257983.1:c.2543G>A XP_005258040.1:p.Gly848Glu
XM_005257984.1:c.2543G>A XP_005258041.1:p.Gly848Glu
XM_006721922.1:c.2573G>A XP_006721985.1:p.Gly858Glu
XM_006721923.2:c.2534G>A XP_006721986.1:p.Gly845Glu
XM_006721924.1:c.2573G>A XP_006721987.1:p.Gly858Glu
XM_006721925.1:c.2573G>A XP_006721988.1:p.Gly858Glu
XM_006721926.2:c.2573G>A XP_006721989.1:p.Gly858Glu
XM_006721927.1:c.2573G>A XP_006721990.1:p.Gly858Glu
XM_006721928.2:c.2573G>A XP_006721991.1:p.Gly858Glu
XM_011524852.1:c.2570G>A XP_011523154.1:p.Gly857Glu
XM_011524853.1:c.2534G>A XP_011523155.1:p.Gly845Glu
XM_011524854.1:c.2534G>A XP_011523156.1:p.Gly845Glu
XM_011524855.1:c.2534G>A XP_011523157.1:p.Gly845Glu
XM_011524856.1:c.2534G>A XP_011523158.1:p.Gly845Glu
XM_011524857.1:c.2573G>A XP_011523159.1:p.Gly858Glu
NM_001042492.3:c.2543G>A MANE Select NP_001035957.1:p.Gly848Glu