Canonical Allele Identifier: CA2255573432

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258384T= , CM000679.2:g.31258384T=	GRCh38
NC_000017.10:g.29585402T= , CM000679.1:g.29585402T=	GRCh37
NC_000017.9:g.26609528T=	NCBI36
NG_009018.1:g.168408T= , LRG_214:g.168408T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.2T=	ENSP00000492721.2:p.Val1=
ENST00000696138.1:c.4196T=	ENSP00000512431.1:p.Val1399=
ENST00000696140.1:n.320T=
ENST00000696141.1:c.205T=
ENST00000687863.1:n.859T=
ENST00000691014.1:c.4244T=	ENSP00000510595.1:p.Val1415=
ENST00000691649.1:n.186T=
ENST00000358273.9:c.4214T= MANE Select	ENSP00000351015.4:p.Val1405=
ENST00000356175.7:c.4151T=	ENSP00000348498.3:p.Val1384=
ENST00000358273.8:c.4214T=	ENSP00000351015.4:p.Val1405=
ENST00000456735.6:c.3149T=	ENSP00000389907.2:p.Val1050=
ENST00000466819.5:c.730T=
ENST00000479614.1:c.667T=
ENST00000493220.5:n.2687T=
ENST00000579081.5:c.4253T=	ENSP00000462408.1:p.Val1418=
NM_000267.3:c.4151T= , LRG_214t1:c.4151T=	NP_000258.1:p.Val1384=
NM_001042492.2:c.4214T= , LRG_214t2:c.4214T=	NP_001035957.1:p.Val1405=
XM_005257983.1:c.4214T=	XP_005258040.1:p.Val1405=
XM_005257984.1:c.4151T=	XP_005258041.1:p.Val1384=
XM_006721922.1:c.4244T=	XP_006721985.1:p.Val1415=
XM_006721923.2:c.4205T=	XP_006721986.1:p.Val1402=
XM_006721924.1:c.4244T=	XP_006721987.1:p.Val1415=
XM_006721925.1:c.4181T=	XP_006721988.1:p.Val1394=
XM_006721926.2:c.4244T=	XP_006721989.1:p.Val1415=
XM_006721927.1:c.4244T=	XP_006721990.1:p.Val1415=
XM_006721928.2:c.4244T=	XP_006721991.1:p.Val1415=
XM_011524852.1:c.4241T=	XP_011523154.1:p.Val1414=
XM_011524853.1:c.4205T=	XP_011523155.1:p.Val1402=
XM_011524854.1:c.4205T=	XP_011523156.1:p.Val1402=
XM_011524855.1:c.4205T=	XP_011523157.1:p.Val1402=
XM_011524856.1:c.4205T=	XP_011523158.1:p.Val1402=
XM_011524857.1:c.4244T=	XP_011523159.1:p.Val1415=
NM_001042492.3:c.4214T= MANE Select	NP_001035957.1:p.Val1405=