Canonical Allele Identifier: CA2255605095

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343078G= , CM000679.2:g.31343078G=	GRCh38
NC_000017.10:g.29670096G= , CM000679.1:g.29670096G=	GRCh37
NC_000017.9:g.26694222G=	NCBI36
NG_009018.1:g.253102G= , LRG_214:g.253102G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7114G=	ENSP00000512431.1:p.Val2372=
ENST00000684826.1:c.1696G=	ENSP00000509994.1:p.Val566=
ENST00000687027.1:c.1288G=	ENSP00000508715.1:p.Val430=
ENST00000687863.1:n.3777G=
ENST00000689464.1:c.71G=
ENST00000691014.1:c.7162G=	ENSP00000510595.1:p.Val2388=
ENST00000693617.1:c.1696G=	ENSP00000510031.1:p.Val566=
ENST00000358273.9:c.7132G= MANE Select	ENSP00000351015.4:p.Val2378=
ENST00000356175.7:c.7069G=	ENSP00000348498.3:p.Val2357=
ENST00000358273.8:c.7132G=	ENSP00000351015.4:p.Val2378=
ENST00000456735.6:c.6067G=	ENSP00000389907.2:p.Val2023=
ENST00000471572.6:c.515G=
ENST00000579081.5:c.7268G=	ENSP00000462408.1:n.7268G=
ENST00000581790.5:c.275G=
ENST00000582892.1:n.374G=
ENST00000584328.1:n.546G=
NM_000267.3:c.7069G= , LRG_214t1:c.7069G=	NP_000258.1:p.Val2357=
NM_001042492.2:c.7132G= , LRG_214t2:c.7132G=	NP_001035957.1:p.Val2378=
XM_005257983.1:c.7132G=	XP_005258040.1:p.Val2378=
XM_005257984.1:c.7069G=	XP_005258041.1:p.Val2357=
XM_006721922.1:c.7162G=	XP_006721985.1:p.Val2388=
XM_006721923.2:c.7123G=	XP_006721986.1:p.Val2375=
XM_006721924.1:c.7162G=	XP_006721987.1:p.Val2388=
XM_006721925.1:c.7099G=	XP_006721988.1:p.Val2367=
XM_006721926.2:c.7162G=	XP_006721989.1:p.Val2388=
XM_006721927.1:c.7162G=	XP_006721990.1:p.Val2388=
XM_011524852.1:c.7159G=	XP_011523154.1:p.Val2387=
XM_011524853.1:c.7123G=	XP_011523155.1:p.Val2375=
XM_011524854.1:c.7123G=	XP_011523156.1:p.Val2375=
XM_011524855.1:c.7123G=	XP_011523157.1:p.Val2375=
XM_011524856.1:c.7123G=	XP_011523158.1:p.Val2375=
XM_011524857.1:c.7162G=	XP_011523159.1:p.Val2388=
NM_001042492.3:c.7132G= MANE Select	NP_001035957.1:p.Val2378=