Canonical Allele Identifier: CA398997531

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258353C>T , CM000679.2:g.31258353C>T	GRCh38
NC_000017.10:g.29585371C>T , CM000679.1:g.29585371C>T	GRCh37
NC_000017.9:g.26609497C>T	NCBI36
NG_009018.1:g.168377C>T , LRG_214:g.168377C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4183C>T MANE Select	NP_001035957.1:p.Gln1395Ter
ENST00000358273.9:c.4183C>T MANE Select	ENSP00000351015.4:p.Gln1395Ter
NM_000267.3:c.4120C>T , LRG_214t1:c.4120C>T	NP_000258.1:p.Gln1374Ter
NM_001042492.2:c.4183C>T , LRG_214t2:c.4183C>T	NP_001035957.1:p.Gln1395Ter
ENST00000356175.7:c.4120C>T	ENSP00000348498.3:p.Gln1374Ter
ENST00000358273.8:c.4183C>T	ENSP00000351015.4:p.Gln1395Ter
ENST00000456735.6:c.3118C>T	ENSP00000389907.2:p.Gln1040Ter
ENST00000466819.5:c.699C>T
ENST00000479614.1:c.636C>T
ENST00000493220.5:n.2656C>T
ENST00000579081.5:c.4222C>T	ENSP00000462408.1:p.Gln1408Ter
ENST00000687863.1:n.828C>T
ENST00000691014.1:c.4213C>T	ENSP00000510595.1:p.Gln1405Ter
ENST00000691649.1:n.155C>T
ENST00000696138.1:c.4165C>T	ENSP00000512431.1:p.Gln1389Ter
ENST00000696140.1:n.289C>T
ENST00000696141.1:c.174C>T
XM_005257983.1:c.4183C>T	XP_005258040.1:p.Gln1395Ter
XM_005257984.1:c.4120C>T	XP_005258041.1:p.Gln1374Ter
XM_006721922.1:c.4213C>T	XP_006721985.1:p.Gln1405Ter
XM_006721923.2:c.4174C>T	XP_006721986.1:p.Gln1392Ter
XM_006721924.1:c.4213C>T	XP_006721987.1:p.Gln1405Ter
XM_006721925.1:c.4150C>T	XP_006721988.1:p.Gln1384Ter
XM_006721926.2:c.4213C>T	XP_006721989.1:p.Gln1405Ter
XM_006721927.1:c.4213C>T	XP_006721990.1:p.Gln1405Ter
XM_006721928.2:c.4213C>T	XP_006721991.1:p.Gln1405Ter
XM_011524852.1:c.4210C>T	XP_011523154.1:p.Gln1404Ter
XM_011524853.1:c.4174C>T	XP_011523155.1:p.Gln1392Ter
XM_011524854.1:c.4174C>T	XP_011523156.1:p.Gln1392Ter
XM_011524855.1:c.4174C>T	XP_011523157.1:p.Gln1392Ter
XM_011524856.1:c.4174C>T	XP_011523158.1:p.Gln1392Ter
XM_011524857.1:c.4213C>T	XP_011523159.1:p.Gln1405Ter