Canonical Allele Identifier: CA399007850
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527455
dbSNP Id: rs773378630

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31326144G>C , CM000679.2:g.31326144G>C GRCh38
NC_000017.10:g.29653162G>C , CM000679.1:g.29653162G>C GRCh37
NC_000017.9:g.26677288G>C NCBI36
NG_009018.1:g.236168G>C , LRG_214:g.236168G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.1348G>C ENSP00000492721.2:n.1348G>C
ENST00000696138.1:c.5142G>C ENSP00000512431.1:p.Glu1714Asp
ENST00000684826.1:c.-277G>C ENSP00000509994.1:n.-277G>C
ENST00000687027.1:c.-344G>C ENSP00000508715.1:n.-344G>C
ENST00000687863.1:n.1805G>C
ENST00000691014.1:c.5190G>C ENSP00000510595.1:p.Glu1730Asp
ENST00000693617.1:c.-277G>C ENSP00000510031.1:n.-277G>C
ENST00000358273.9:c.5160G>C MANE Select ENSP00000351015.4:p.Glu1720Asp
ENST00000356175.7:c.5097G>C ENSP00000348498.3:p.Glu1699Asp
ENST00000358273.8:c.5160G>C ENSP00000351015.4:p.Glu1720Asp
ENST00000456735.6:c.4095G>C ENSP00000389907.2:p.Glu1365Asp
ENST00000493220.5:n.3633G>C
ENST00000579081.5:c.5296G>C ENSP00000462408.1:n.5296G>C
ENST00000581113.6:n.477G>C
NM_000267.3:c.5097G>C , LRG_214t1:c.5097G>C NP_000258.1:p.Glu1699Asp
NM_001042492.2:c.5160G>C , LRG_214t2:c.5160G>C NP_001035957.1:p.Glu1720Asp
XM_005257983.1:c.5160G>C XP_005258040.1:p.Glu1720Asp
XM_005257984.1:c.5097G>C XP_005258041.1:p.Glu1699Asp
XM_006721922.1:c.5190G>C XP_006721985.1:p.Glu1730Asp
XM_006721923.2:c.5151G>C XP_006721986.1:p.Glu1717Asp
XM_006721924.1:c.5190G>C XP_006721987.1:p.Glu1730Asp
XM_006721925.1:c.5127G>C XP_006721988.1:p.Glu1709Asp
XM_006721926.2:c.5190G>C XP_006721989.1:p.Glu1730Asp
XM_006721927.1:c.5190G>C XP_006721990.1:p.Glu1730Asp
XM_011524852.1:c.5187G>C XP_011523154.1:p.Glu1729Asp
XM_011524853.1:c.5151G>C XP_011523155.1:p.Glu1717Asp
XM_011524854.1:c.5151G>C XP_011523156.1:p.Glu1717Asp
XM_011524855.1:c.5151G>C XP_011523157.1:p.Glu1717Asp
XM_011524856.1:c.5151G>C XP_011523158.1:p.Glu1717Asp
XM_011524857.1:c.5190G>C XP_011523159.1:p.Glu1730Asp
NM_001042492.3:c.5160G>C MANE Select NP_001035957.1:p.Glu1720Asp