Canonical Allele Identifier: CA399014364
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151559264

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338760A>T , CM000679.2:g.31338760A>T GRCh38
NC_000017.10:g.29665778A>T , CM000679.1:g.29665778A>T GRCh37
NC_000017.9:g.26689904A>T NCBI36
NG_009018.1:g.248784A>T , LRG_214:g.248784A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6858A>T ENSP00000512431.1:p.Glu2286Asp
ENST00000684826.1:c.1440A>T ENSP00000509994.1:p.Glu480Asp
ENST00000684998.1:n.2698A>T
ENST00000687027.1:c.1032A>T ENSP00000508715.1:p.Glu344Asp
ENST00000687863.1:n.3521A>T
ENST00000691014.1:c.6906A>T ENSP00000510595.1:p.Glu2302Asp
ENST00000693617.1:c.1440A>T ENSP00000510031.1:p.Glu480Asp
ENST00000358273.9:c.6876A>T MANE Select ENSP00000351015.4:p.Glu2292Asp
ENST00000356175.7:c.6813A>T ENSP00000348498.3:p.Glu2271Asp
ENST00000358273.8:c.6876A>T ENSP00000351015.4:p.Glu2292Asp
ENST00000456735.6:c.5811A>T ENSP00000389907.2:p.Glu1937Asp
ENST00000471572.6:c.259A>T
ENST00000579081.5:c.7012A>T ENSP00000462408.1:n.7012A>T
ENST00000581790.5:c.64+880A>T
ENST00000584328.1:n.290A>T
NM_000267.3:c.6813A>T , LRG_214t1:c.6813A>T NP_000258.1:p.Glu2271Asp
NM_001042492.2:c.6876A>T , LRG_214t2:c.6876A>T NP_001035957.1:p.Glu2292Asp
XM_005257983.1:c.6876A>T XP_005258040.1:p.Glu2292Asp
XM_005257984.1:c.6813A>T XP_005258041.1:p.Glu2271Asp
XM_006721922.1:c.6906A>T XP_006721985.1:p.Glu2302Asp
XM_006721923.2:c.6867A>T XP_006721986.1:p.Glu2289Asp
XM_006721924.1:c.6906A>T XP_006721987.1:p.Glu2302Asp
XM_006721925.1:c.6843A>T XP_006721988.1:p.Glu2281Asp
XM_006721926.2:c.6906A>T XP_006721989.1:p.Glu2302Asp
XM_006721927.1:c.6906A>T XP_006721990.1:p.Glu2302Asp
XM_011524852.1:c.6903A>T XP_011523154.1:p.Glu2301Asp
XM_011524853.1:c.6867A>T XP_011523155.1:p.Glu2289Asp
XM_011524854.1:c.6867A>T XP_011523156.1:p.Glu2289Asp
XM_011524855.1:c.6867A>T XP_011523157.1:p.Glu2289Asp
XM_011524856.1:c.6867A>T XP_011523158.1:p.Glu2289Asp
XM_011524857.1:c.6906A>T XP_011523159.1:p.Glu2302Asp
NM_001042492.3:c.6876A>T MANE Select NP_001035957.1:p.Glu2292Asp