Canonical Allele Identifier: CA2255615404

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325833C= , CM000679.2:g.31325833C=	GRCh38
NC_000017.10:g.29652851C= , CM000679.1:g.29652851C=	GRCh37
NC_000017.9:g.26676977C=	NCBI36
NG_009018.1:g.235857C= , LRG_214:g.235857C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1037C=	ENSP00000492721.2:n.1037C=
ENST00000696138.1:c.4831C=	ENSP00000512431.1:p.Gln1611=
ENST00000684826.1:c.-588C=	ENSP00000509994.1:n.-588C=
ENST00000687027.1:c.-655C=	ENSP00000508715.1:n.-655C=
ENST00000687863.1:n.1494C=
ENST00000691014.1:c.4879C=	ENSP00000510595.1:p.Gln1627=
ENST00000693617.1:c.-588C=	ENSP00000510031.1:n.-588C=
ENST00000358273.9:c.4849C= MANE Select	ENSP00000351015.4:p.Gln1617=
ENST00000356175.7:c.4786C=	ENSP00000348498.3:p.Gln1596=
ENST00000358273.8:c.4849C=	ENSP00000351015.4:p.Gln1617=
ENST00000456735.6:c.3784C=	ENSP00000389907.2:p.Gln1262=
ENST00000493220.5:n.3322C=
ENST00000579081.5:c.4985C=	ENSP00000462408.1:n.4985C=
ENST00000581113.6:n.166C=
NM_000267.3:c.4786C= , LRG_214t1:c.4786C=	NP_000258.1:p.Gln1596=
NM_001042492.2:c.4849C= , LRG_214t2:c.4849C=	NP_001035957.1:p.Gln1617=
XM_005257983.1:c.4849C=	XP_005258040.1:p.Gln1617=
XM_005257984.1:c.4786C=	XP_005258041.1:p.Gln1596=
XM_006721922.1:c.4879C=	XP_006721985.1:p.Gln1627=
XM_006721923.2:c.4840C=	XP_006721986.1:p.Gln1614=
XM_006721924.1:c.4879C=	XP_006721987.1:p.Gln1627=
XM_006721925.1:c.4816C=	XP_006721988.1:p.Gln1606=
XM_006721926.2:c.4879C=	XP_006721989.1:p.Gln1627=
XM_006721927.1:c.4879C=	XP_006721990.1:p.Gln1627=
XM_011524852.1:c.4876C=	XP_011523154.1:p.Gln1626=
XM_011524853.1:c.4840C=	XP_011523155.1:p.Gln1614=
XM_011524854.1:c.4840C=	XP_011523156.1:p.Gln1614=
XM_011524855.1:c.4840C=	XP_011523157.1:p.Gln1614=
XM_011524856.1:c.4840C=	XP_011523158.1:p.Gln1614=
XM_011524857.1:c.4879C=	XP_011523159.1:p.Gln1627=
NM_001042492.3:c.4849C= MANE Select	NP_001035957.1:p.Gln1617=