Canonical Allele Identifier: CA399203412
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1760821
ClinVar RCV Id: RCV002412134
dbSNP Id: rs2151583239

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31357297A>T , CM000679.2:g.31357297A>T GRCh38
NC_000017.10:g.29684315A>T , CM000679.1:g.29684315A>T GRCh37
NC_000017.9:g.26708441A>T NCBI36
NG_009018.1:g.267321A>T , LRG_214:g.267321A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7880A>T ENSP00000512431.1:p.Glu2627Val
ENST00000684826.1:c.2462A>T ENSP00000509994.1:p.Glu821Val
ENST00000687027.1:c.2054A>T ENSP00000508715.1:p.Glu685Val
ENST00000687863.1:n.4543A>T
ENST00000689464.1:c.948A>T
ENST00000691014.1:c.7928A>T ENSP00000510595.1:p.Glu2643Val
ENST00000693617.1:c.2462A>T ENSP00000510031.1:p.Glu821Val
ENST00000358273.9:c.7898A>T MANE Select ENSP00000351015.4:p.Glu2633Val
ENST00000356175.7:c.7835A>T ENSP00000348498.3:p.Glu2612Val
ENST00000358273.8:c.7898A>T ENSP00000351015.4:p.Glu2633Val
ENST00000456735.6:c.6833A>T ENSP00000389907.2:p.Glu2278Val
ENST00000471572.6:c.1281A>T
ENST00000577967.1:n.1494A>T
ENST00000579081.5:c.8034A>T ENSP00000462408.1:n.8034A>T
ENST00000581790.5:c.883A>T
NM_000267.3:c.7835A>T , LRG_214t1:c.7835A>T NP_000258.1:p.Glu2612Val
NM_001042492.2:c.7898A>T , LRG_214t2:c.7898A>T NP_001035957.1:p.Glu2633Val
XM_005257983.1:c.7898A>T XP_005258040.1:p.Glu2633Val
XM_005257984.1:c.7835A>T XP_005258041.1:p.Glu2612Val
XM_006721922.1:c.7928A>T XP_006721985.1:p.Glu2643Val
XM_006721923.2:c.7889A>T XP_006721986.1:p.Glu2630Val
XM_006721924.1:c.7928A>T XP_006721987.1:p.Glu2643Val
XM_006721925.1:c.7865A>T XP_006721988.1:p.Glu2622Val
XM_006721926.2:c.7928A>T XP_006721989.1:p.Glu2643Val
XM_006721927.1:c.7928A>T XP_006721990.1:p.Glu2643Val
XM_011524852.1:c.7925A>T XP_011523154.1:p.Glu2642Val
XM_011524853.1:c.7889A>T XP_011523155.1:p.Glu2630Val
XM_011524854.1:c.7889A>T XP_011523156.1:p.Glu2630Val
XM_011524855.1:c.7889A>T XP_011523157.1:p.Glu2630Val
XM_011524856.1:c.7889A>T XP_011523158.1:p.Glu2630Val
XM_011524857.1:c.7805A>T XP_011523159.1:p.Glu2602Val
NM_001042492.3:c.7898A>T MANE Select NP_001035957.1:p.Glu2633Val