Canonical Allele Identifier: CA2255615407

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31325838C= , CM000679.2:g.31325838C=	GRCh38
NC_000017.10:g.29652856C= , CM000679.1:g.29652856C=	GRCh37
NC_000017.9:g.26676982C=	NCBI36
NG_009018.1:g.235862C= , LRG_214:g.235862C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.1042C=	ENSP00000492721.2:n.1042C=
ENST00000696138.1:c.4836C=	ENSP00000512431.1:p.Ile1612=
ENST00000684826.1:c.-583C=	ENSP00000509994.1:n.-583C=
ENST00000687027.1:c.-650C=	ENSP00000508715.1:n.-650C=
ENST00000687863.1:n.1499C=
ENST00000691014.1:c.4884C=	ENSP00000510595.1:p.Ile1628=
ENST00000693617.1:c.-583C=	ENSP00000510031.1:n.-583C=
ENST00000358273.9:c.4854C= MANE Select	ENSP00000351015.4:p.Ile1618=
ENST00000356175.7:c.4791C=	ENSP00000348498.3:p.Ile1597=
ENST00000358273.8:c.4854C=	ENSP00000351015.4:p.Ile1618=
ENST00000456735.6:c.3789C=	ENSP00000389907.2:p.Ile1263=
ENST00000493220.5:n.3327C=
ENST00000579081.5:c.4990C=	ENSP00000462408.1:n.4990C=
ENST00000581113.6:n.171C=
NM_000267.3:c.4791C= , LRG_214t1:c.4791C=	NP_000258.1:p.Ile1597=
NM_001042492.2:c.4854C= , LRG_214t2:c.4854C=	NP_001035957.1:p.Ile1618=
XM_005257983.1:c.4854C=	XP_005258040.1:p.Ile1618=
XM_005257984.1:c.4791C=	XP_005258041.1:p.Ile1597=
XM_006721922.1:c.4884C=	XP_006721985.1:p.Ile1628=
XM_006721923.2:c.4845C=	XP_006721986.1:p.Ile1615=
XM_006721924.1:c.4884C=	XP_006721987.1:p.Ile1628=
XM_006721925.1:c.4821C=	XP_006721988.1:p.Ile1607=
XM_006721926.2:c.4884C=	XP_006721989.1:p.Ile1628=
XM_006721927.1:c.4884C=	XP_006721990.1:p.Ile1628=
XM_011524852.1:c.4881C=	XP_011523154.1:p.Ile1627=
XM_011524853.1:c.4845C=	XP_011523155.1:p.Ile1615=
XM_011524854.1:c.4845C=	XP_011523156.1:p.Ile1615=
XM_011524855.1:c.4845C=	XP_011523157.1:p.Ile1615=
XM_011524856.1:c.4845C=	XP_011523158.1:p.Ile1615=
XM_011524857.1:c.4884C=	XP_011523159.1:p.Ile1628=
NM_001042492.3:c.4854C= MANE Select	NP_001035957.1:p.Ile1618=