Canonical Allele Identifier: CA2255605085

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343056C= , CM000679.2:g.31343056C=	GRCh38
NC_000017.10:g.29670074C= , CM000679.1:g.29670074C=	GRCh37
NC_000017.9:g.26694200C=	NCBI36
NG_009018.1:g.253080C= , LRG_214:g.253080C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7092C=	ENSP00000512431.1:p.His2364=
ENST00000684826.1:c.1674C=	ENSP00000509994.1:p.His558=
ENST00000687027.1:c.1266C=	ENSP00000508715.1:p.His422=
ENST00000687863.1:n.3755C=
ENST00000689464.1:c.49C=
ENST00000691014.1:c.7140C=	ENSP00000510595.1:p.His2380=
ENST00000693617.1:c.1674C=	ENSP00000510031.1:p.His558=
ENST00000358273.9:c.7110C= MANE Select	ENSP00000351015.4:p.His2370=
ENST00000356175.7:c.7047C=	ENSP00000348498.3:p.His2349=
ENST00000358273.8:c.7110C=	ENSP00000351015.4:p.His2370=
ENST00000456735.6:c.6045C=	ENSP00000389907.2:p.His2015=
ENST00000471572.6:c.493C=
ENST00000579081.5:c.7246C=	ENSP00000462408.1:n.7246C=
ENST00000581790.5:c.253C=
ENST00000582892.1:n.352C=
ENST00000584328.1:n.524C=
NM_000267.3:c.7047C= , LRG_214t1:c.7047C=	NP_000258.1:p.His2349=
NM_001042492.2:c.7110C= , LRG_214t2:c.7110C=	NP_001035957.1:p.His2370=
XM_005257983.1:c.7110C=	XP_005258040.1:p.His2370=
XM_005257984.1:c.7047C=	XP_005258041.1:p.His2349=
XM_006721922.1:c.7140C=	XP_006721985.1:p.His2380=
XM_006721923.2:c.7101C=	XP_006721986.1:p.His2367=
XM_006721924.1:c.7140C=	XP_006721987.1:p.His2380=
XM_006721925.1:c.7077C=	XP_006721988.1:p.His2359=
XM_006721926.2:c.7140C=	XP_006721989.1:p.His2380=
XM_006721927.1:c.7140C=	XP_006721990.1:p.His2380=
XM_011524852.1:c.7137C=	XP_011523154.1:p.His2379=
XM_011524853.1:c.7101C=	XP_011523155.1:p.His2367=
XM_011524854.1:c.7101C=	XP_011523156.1:p.His2367=
XM_011524855.1:c.7101C=	XP_011523157.1:p.His2367=
XM_011524856.1:c.7101C=	XP_011523158.1:p.His2367=
XM_011524857.1:c.7140C=	XP_011523159.1:p.His2380=
NM_001042492.3:c.7110C= MANE Select	NP_001035957.1:p.His2370=