Canonical Allele Identifier: CA2255573366

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258354A= , CM000679.2:g.31258354A=	GRCh38
NC_000017.10:g.29585372A= , CM000679.1:g.29585372A=	GRCh37
NC_000017.9:g.26609498A=	NCBI36
NG_009018.1:g.168378A= , LRG_214:g.168378A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4166A=	ENSP00000512431.1:p.Gln1389=
ENST00000696140.1:n.290A=
ENST00000696141.1:c.175A=
ENST00000687863.1:n.829A=
ENST00000691014.1:c.4214A=	ENSP00000510595.1:p.Gln1405=
ENST00000691649.1:n.156A=
ENST00000358273.9:c.4184A= MANE Select	ENSP00000351015.4:p.Gln1395=
ENST00000356175.7:c.4121A=	ENSP00000348498.3:p.Gln1374=
ENST00000358273.8:c.4184A=	ENSP00000351015.4:p.Gln1395=
ENST00000456735.6:c.3119A=	ENSP00000389907.2:p.Gln1040=
ENST00000466819.5:c.700A=
ENST00000479614.1:c.637A=
ENST00000493220.5:n.2657A=
ENST00000579081.5:c.4223A=	ENSP00000462408.1:p.Gln1408=
NM_000267.3:c.4121A= , LRG_214t1:c.4121A=	NP_000258.1:p.Gln1374=
NM_001042492.2:c.4184A= , LRG_214t2:c.4184A=	NP_001035957.1:p.Gln1395=
XM_005257983.1:c.4184A=	XP_005258040.1:p.Gln1395=
XM_005257984.1:c.4121A=	XP_005258041.1:p.Gln1374=
XM_006721922.1:c.4214A=	XP_006721985.1:p.Gln1405=
XM_006721923.2:c.4175A=	XP_006721986.1:p.Gln1392=
XM_006721924.1:c.4214A=	XP_006721987.1:p.Gln1405=
XM_006721925.1:c.4151A=	XP_006721988.1:p.Gln1384=
XM_006721926.2:c.4214A=	XP_006721989.1:p.Gln1405=
XM_006721927.1:c.4214A=	XP_006721990.1:p.Gln1405=
XM_006721928.2:c.4214A=	XP_006721991.1:p.Gln1405=
XM_011524852.1:c.4211A=	XP_011523154.1:p.Gln1404=
XM_011524853.1:c.4175A=	XP_011523155.1:p.Gln1392=
XM_011524854.1:c.4175A=	XP_011523156.1:p.Gln1392=
XM_011524855.1:c.4175A=	XP_011523157.1:p.Gln1392=
XM_011524856.1:c.4175A=	XP_011523158.1:p.Gln1392=
XM_011524857.1:c.4214A=	XP_011523159.1:p.Gln1405=
NM_001042492.3:c.4184A= MANE Select	NP_001035957.1:p.Gln1395=