Canonical Allele Identifier: CA2255602825

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338034C= , CM000679.2:g.31338034C=	GRCh38
NC_000017.10:g.29665052C= , CM000679.1:g.29665052C=	GRCh37
NC_000017.9:g.26689178C=	NCBI36
NG_009018.1:g.248058C= , LRG_214:g.248058C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6696C=	ENSP00000512431.1:p.Phe2232=
ENST00000684826.1:c.1278C=	ENSP00000509994.1:p.Phe426=
ENST00000684998.1:n.1972C=
ENST00000687027.1:c.870C=	ENSP00000508715.1:p.Phe290=
ENST00000687863.1:n.3359C=
ENST00000691014.1:c.6744C=	ENSP00000510595.1:p.Phe2248=
ENST00000693617.1:c.1278C=	ENSP00000510031.1:p.Phe426=
ENST00000358273.9:c.6714C= MANE Select	ENSP00000351015.4:p.Phe2238=
ENST00000356175.7:c.6651C=	ENSP00000348498.3:p.Phe2217=
ENST00000358273.8:c.6714C=	ENSP00000351015.4:p.Phe2238=
ENST00000456735.6:c.5649C=	ENSP00000389907.2:p.Phe1883=
ENST00000471572.6:c.97C=
ENST00000579081.5:c.6850C=	ENSP00000462408.1:n.6850C=
ENST00000581790.5:c.64+154C=
ENST00000584328.1:n.128C=
NM_000267.3:c.6651C= , LRG_214t1:c.6651C=	NP_000258.1:p.Phe2217=
NM_001042492.2:c.6714C= , LRG_214t2:c.6714C=	NP_001035957.1:p.Phe2238=
XM_005257983.1:c.6714C=	XP_005258040.1:p.Phe2238=
XM_005257984.1:c.6651C=	XP_005258041.1:p.Phe2217=
XM_006721922.1:c.6744C=	XP_006721985.1:p.Phe2248=
XM_006721923.2:c.6705C=	XP_006721986.1:p.Phe2235=
XM_006721924.1:c.6744C=	XP_006721987.1:p.Phe2248=
XM_006721925.1:c.6681C=	XP_006721988.1:p.Phe2227=
XM_006721926.2:c.6744C=	XP_006721989.1:p.Phe2248=
XM_006721927.1:c.6744C=	XP_006721990.1:p.Phe2248=
XM_011524852.1:c.6741C=	XP_011523154.1:p.Phe2247=
XM_011524853.1:c.6705C=	XP_011523155.1:p.Phe2235=
XM_011524854.1:c.6705C=	XP_011523156.1:p.Phe2235=
XM_011524855.1:c.6705C=	XP_011523157.1:p.Phe2235=
XM_011524856.1:c.6705C=	XP_011523158.1:p.Phe2235=
XM_011524857.1:c.6744C=	XP_011523159.1:p.Phe2248=
NM_001042492.3:c.6714C= MANE Select	NP_001035957.1:p.Phe2238=