Canonical Allele Identifier: CA398997547

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258356C>T , CM000679.2:g.31258356C>T	GRCh38
NC_000017.10:g.29585374C>T , CM000679.1:g.29585374C>T	GRCh37
NC_000017.9:g.26609500C>T	NCBI36
NG_009018.1:g.168380C>T , LRG_214:g.168380C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4186C>T MANE Select	NP_001035957.1:p.Arg1396Cys
ENST00000358273.9:c.4186C>T MANE Select	ENSP00000351015.4:p.Arg1396Cys
NM_000267.3:c.4123C>T , LRG_214t1:c.4123C>T	NP_000258.1:p.Arg1375Cys
NM_001042492.2:c.4186C>T , LRG_214t2:c.4186C>T	NP_001035957.1:p.Arg1396Cys
ENST00000356175.7:c.4123C>T	ENSP00000348498.3:p.Arg1375Cys
ENST00000358273.8:c.4186C>T	ENSP00000351015.4:p.Arg1396Cys
ENST00000456735.6:c.3121C>T	ENSP00000389907.2:p.Arg1041Cys
ENST00000466819.5:c.702C>T
ENST00000479614.1:c.639C>T
ENST00000493220.5:n.2659C>T
ENST00000579081.5:c.4225C>T	ENSP00000462408.1:p.Arg1409Cys
ENST00000687863.1:n.831C>T
ENST00000691014.1:c.4216C>T	ENSP00000510595.1:p.Arg1406Cys
ENST00000691649.1:n.158C>T
ENST00000696138.1:c.4168C>T	ENSP00000512431.1:p.Arg1390Cys
ENST00000696140.1:n.292C>T
ENST00000696141.1:c.177C>T
XM_005257983.1:c.4186C>T	XP_005258040.1:p.Arg1396Cys
XM_005257984.1:c.4123C>T	XP_005258041.1:p.Arg1375Cys
XM_006721922.1:c.4216C>T	XP_006721985.1:p.Arg1406Cys
XM_006721923.2:c.4177C>T	XP_006721986.1:p.Arg1393Cys
XM_006721924.1:c.4216C>T	XP_006721987.1:p.Arg1406Cys
XM_006721925.1:c.4153C>T	XP_006721988.1:p.Arg1385Cys
XM_006721926.2:c.4216C>T	XP_006721989.1:p.Arg1406Cys
XM_006721927.1:c.4216C>T	XP_006721990.1:p.Arg1406Cys
XM_006721928.2:c.4216C>T	XP_006721991.1:p.Arg1406Cys
XM_011524852.1:c.4213C>T	XP_011523154.1:p.Arg1405Cys
XM_011524853.1:c.4177C>T	XP_011523155.1:p.Arg1393Cys
XM_011524854.1:c.4177C>T	XP_011523156.1:p.Arg1393Cys
XM_011524855.1:c.4177C>T	XP_011523157.1:p.Arg1393Cys
XM_011524856.1:c.4177C>T	XP_011523158.1:p.Arg1393Cys
XM_011524857.1:c.4216C>T	XP_011523159.1:p.Arg1406Cys