Canonical Allele Identifier: CA398994845
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2067448156

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31249002C>A , CM000679.2:g.31249002C>A GRCh38
NC_000017.10:g.29576020C>A , CM000679.1:g.29576020C>A GRCh37
NC_000017.9:g.26600146C>A NCBI36
NG_009018.1:g.159026C>A , LRG_214:g.159026C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.4038C>A ENSP00000512431.1:p.Ser1346Arg
ENST00000696139.1:c.1456C>A ENSP00000512432.1:n.1456C>A
ENST00000696140.1:n.99C>A
ENST00000687863.1:n.701C>A
ENST00000691014.1:c.4023C>A ENSP00000510595.1:p.Ser1341Arg
ENST00000358273.9:c.3993C>A MANE Select ENSP00000351015.4:p.Ser1331Arg
ENST00000356175.7:c.3993C>A ENSP00000348498.3:p.Ser1331Arg
ENST00000358273.8:c.3993C>A ENSP00000351015.4:p.Ser1331Arg
ENST00000456735.6:c.2991C>A ENSP00000389907.2:p.Ser997Arg
ENST00000466819.5:c.469C>A
ENST00000479614.1:c.469C>A
ENST00000493220.5:n.2529C>A
ENST00000495910.6:c.3768C>A
ENST00000579081.5:c.4095C>A ENSP00000462408.1:p.Ser1365Arg
NM_000267.3:c.3993C>A , LRG_214t1:c.3993C>A NP_000258.1:p.Ser1331Arg
NM_001042492.2:c.3993C>A , LRG_214t2:c.3993C>A NP_001035957.1:p.Ser1331Arg
XM_005257983.1:c.3993C>A XP_005258040.1:p.Ser1331Arg
XM_005257984.1:c.3993C>A XP_005258041.1:p.Ser1331Arg
XM_006721922.1:c.4023C>A XP_006721985.1:p.Ser1341Arg
XM_006721923.2:c.3984C>A XP_006721986.1:p.Ser1328Arg
XM_006721924.1:c.4023C>A XP_006721987.1:p.Ser1341Arg
XM_006721925.1:c.4023C>A XP_006721988.1:p.Ser1341Arg
XM_006721926.2:c.4023C>A XP_006721989.1:p.Ser1341Arg
XM_006721927.1:c.4023C>A XP_006721990.1:p.Ser1341Arg
XM_006721928.2:c.4023C>A XP_006721991.1:p.Ser1341Arg
XM_011524852.1:c.4020C>A XP_011523154.1:p.Ser1340Arg
XM_011524853.1:c.3984C>A XP_011523155.1:p.Ser1328Arg
XM_011524854.1:c.3984C>A XP_011523156.1:p.Ser1328Arg
XM_011524855.1:c.3984C>A XP_011523157.1:p.Ser1328Arg
XM_011524856.1:c.3984C>A XP_011523158.1:p.Ser1328Arg
XM_011524857.1:c.4023C>A XP_011523159.1:p.Ser1341Arg
NM_001042492.3:c.3993C>A MANE Select NP_001035957.1:p.Ser1331Arg