Canonical Allele Identifier: CA2255576469

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260496C= , CM000679.2:g.31260496C=	GRCh38
NC_000017.10:g.29587514C= , CM000679.1:g.29587514C=	GRCh37
NC_000017.9:g.26611640C=	NCBI36
NG_009018.1:g.170520C= , LRG_214:g.170520C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.346C=	ENSP00000492721.2:p.Gln116=
ENST00000696138.1:c.4540C=	ENSP00000512431.1:p.Gln1514=
ENST00000696140.1:n.664C=
ENST00000696141.1:c.549C=
ENST00000687863.1:n.1203C=
ENST00000691014.1:c.4588C=	ENSP00000510595.1:p.Gln1530=
ENST00000691649.1:n.1769C=
ENST00000358273.9:c.4558C= MANE Select	ENSP00000351015.4:p.Gln1520=
ENST00000356175.7:c.4495C=	ENSP00000348498.3:p.Gln1499=
ENST00000358273.8:c.4558C=	ENSP00000351015.4:p.Gln1520=
ENST00000456735.6:c.3493C=	ENSP00000389907.2:p.Gln1165=
ENST00000466819.5:c.1074C=
ENST00000479614.1:c.1011C=
ENST00000493220.5:n.3031C=
ENST00000579081.5:c.4597C=	ENSP00000462408.1:p.Gln1533=
NM_000267.3:c.4495C= , LRG_214t1:c.4495C=	NP_000258.1:p.Gln1499=
NM_001042492.2:c.4558C= , LRG_214t2:c.4558C=	NP_001035957.1:p.Gln1520=
XM_005257983.1:c.4558C=	XP_005258040.1:p.Gln1520=
XM_005257984.1:c.4495C=	XP_005258041.1:p.Gln1499=
XM_006721922.1:c.4588C=	XP_006721985.1:p.Gln1530=
XM_006721923.2:c.4549C=	XP_006721986.1:p.Gln1517=
XM_006721924.1:c.4588C=	XP_006721987.1:p.Gln1530=
XM_006721925.1:c.4525C=	XP_006721988.1:p.Gln1509=
XM_006721926.2:c.4588C=	XP_006721989.1:p.Gln1530=
XM_006721927.1:c.4588C=	XP_006721990.1:p.Gln1530=
XM_006721928.2:c.4588C=	XP_006721991.1:p.Gln1530=
XM_011524852.1:c.4585C=	XP_011523154.1:p.Gln1529=
XM_011524853.1:c.4549C=	XP_011523155.1:p.Gln1517=
XM_011524854.1:c.4549C=	XP_011523156.1:p.Gln1517=
XM_011524855.1:c.4549C=	XP_011523157.1:p.Gln1517=
XM_011524856.1:c.4549C=	XP_011523158.1:p.Gln1517=
XM_011524857.1:c.4588C=	XP_011523159.1:p.Gln1530=
NM_001042492.3:c.4558C= MANE Select	NP_001035957.1:p.Gln1520=