Canonical Allele Identifier: CA399002381
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2144004911

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31221926T>A , CM000679.2:g.31221926T>A GRCh38
NC_000017.10:g.29548944T>A , CM000679.1:g.29548944T>A GRCh37
NC_000017.9:g.26573070T>A NCBI36
NG_009018.1:g.131950T>A , LRG_214:g.131950T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.1763T>A ENSP00000512431.1:p.Ile588Asn
ENST00000686189.1:c.1163T>A ENSP00000509682.1:p.Ile388Asn
ENST00000691014.1:c.1748T>A ENSP00000510595.1:p.Ile583Asn
ENST00000358273.9:c.1718T>A MANE Select ENSP00000351015.4:p.Ile573Asn
ENST00000356175.7:c.1718T>A ENSP00000348498.3:p.Ile573Asn
ENST00000358273.8:c.1718T>A ENSP00000351015.4:p.Ile573Asn
ENST00000431387.8:c.1718T>A ENSP00000412921.4:p.Ile573Asn
ENST00000456735.6:c.716T>A ENSP00000389907.2:p.Ile239Asn
ENST00000495910.6:c.1493T>A
ENST00000579081.5:c.1820T>A ENSP00000462408.1:p.Ile607Asn
NM_000267.3:c.1718T>A , LRG_214t1:c.1718T>A NP_000258.1:p.Ile573Asn
NM_001042492.2:c.1718T>A , LRG_214t2:c.1718T>A NP_001035957.1:p.Ile573Asn
NM_001128147.2:c.1718T>A NP_001121619.1:p.Ile573Asn
XM_005257983.1:c.1718T>A XP_005258040.1:p.Ile573Asn
XM_005257984.1:c.1718T>A XP_005258041.1:p.Ile573Asn
XM_006721922.1:c.1748T>A XP_006721985.1:p.Ile583Asn
XM_006721923.2:c.1709T>A XP_006721986.1:p.Ile570Asn
XM_006721924.1:c.1748T>A XP_006721987.1:p.Ile583Asn
XM_006721925.1:c.1748T>A XP_006721988.1:p.Ile583Asn
XM_006721926.2:c.1748T>A XP_006721989.1:p.Ile583Asn
XM_006721927.1:c.1748T>A XP_006721990.1:p.Ile583Asn
XM_006721928.2:c.1748T>A XP_006721991.1:p.Ile583Asn
XM_011524852.1:c.1748T>A XP_011523154.1:p.Ile583Asn
XM_011524853.1:c.1709T>A XP_011523155.1:p.Ile570Asn
XM_011524854.1:c.1709T>A XP_011523156.1:p.Ile570Asn
XM_011524855.1:c.1709T>A XP_011523157.1:p.Ile570Asn
XM_011524856.1:c.1709T>A XP_011523158.1:p.Ile570Asn
XM_011524857.1:c.1748T>A XP_011523159.1:p.Ile583Asn
NM_001042492.3:c.1718T>A MANE Select NP_001035957.1:p.Ile573Asn
NM_001128147.3:c.1718T>A NP_001121619.1:p.Ile573Asn