Canonical Allele Identifier: CA2255573396

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258365C= , CM000679.2:g.31258365C=	GRCh38
NC_000017.10:g.29585383C= , CM000679.1:g.29585383C=	GRCh37
NC_000017.9:g.26609509C=	NCBI36
NG_009018.1:g.168389C= , LRG_214:g.168389C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4177C=	ENSP00000512431.1:p.Gln1393=
ENST00000696140.1:n.301C=
ENST00000696141.1:c.186C=
ENST00000687863.1:n.840C=
ENST00000691014.1:c.4225C=	ENSP00000510595.1:p.Gln1409=
ENST00000691649.1:n.167C=
ENST00000358273.9:c.4195C= MANE Select	ENSP00000351015.4:p.Gln1399=
ENST00000356175.7:c.4132C=	ENSP00000348498.3:p.Gln1378=
ENST00000358273.8:c.4195C=	ENSP00000351015.4:p.Gln1399=
ENST00000456735.6:c.3130C=	ENSP00000389907.2:p.Gln1044=
ENST00000466819.5:c.711C=
ENST00000479614.1:c.648C=
ENST00000493220.5:n.2668C=
ENST00000579081.5:c.4234C=	ENSP00000462408.1:p.Gln1412=
NM_000267.3:c.4132C= , LRG_214t1:c.4132C=	NP_000258.1:p.Gln1378=
NM_001042492.2:c.4195C= , LRG_214t2:c.4195C=	NP_001035957.1:p.Gln1399=
XM_005257983.1:c.4195C=	XP_005258040.1:p.Gln1399=
XM_005257984.1:c.4132C=	XP_005258041.1:p.Gln1378=
XM_006721922.1:c.4225C=	XP_006721985.1:p.Gln1409=
XM_006721923.2:c.4186C=	XP_006721986.1:p.Gln1396=
XM_006721924.1:c.4225C=	XP_006721987.1:p.Gln1409=
XM_006721925.1:c.4162C=	XP_006721988.1:p.Gln1388=
XM_006721926.2:c.4225C=	XP_006721989.1:p.Gln1409=
XM_006721927.1:c.4225C=	XP_006721990.1:p.Gln1409=
XM_006721928.2:c.4225C=	XP_006721991.1:p.Gln1409=
XM_011524852.1:c.4222C=	XP_011523154.1:p.Gln1408=
XM_011524853.1:c.4186C=	XP_011523155.1:p.Gln1396=
XM_011524854.1:c.4186C=	XP_011523156.1:p.Gln1396=
XM_011524855.1:c.4186C=	XP_011523157.1:p.Gln1396=
XM_011524856.1:c.4186C=	XP_011523158.1:p.Gln1396=
XM_011524857.1:c.4225C=	XP_011523159.1:p.Gln1409=
NM_001042492.3:c.4195C= MANE Select	NP_001035957.1:p.Gln1399=