Canonical Allele Identifier: CA2255605086

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343059C= , CM000679.2:g.31343059C=	GRCh38
NC_000017.10:g.29670077C= , CM000679.1:g.29670077C=	GRCh37
NC_000017.9:g.26694203C=	NCBI36
NG_009018.1:g.253083C= , LRG_214:g.253083C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7095C=	ENSP00000512431.1:p.Cys2365=
ENST00000684826.1:c.1677C=	ENSP00000509994.1:p.Cys559=
ENST00000687027.1:c.1269C=	ENSP00000508715.1:p.Cys423=
ENST00000687863.1:n.3758C=
ENST00000689464.1:c.52C=
ENST00000691014.1:c.7143C=	ENSP00000510595.1:p.Cys2381=
ENST00000693617.1:c.1677C=	ENSP00000510031.1:p.Cys559=
ENST00000358273.9:c.7113C= MANE Select	ENSP00000351015.4:p.Cys2371=
ENST00000356175.7:c.7050C=	ENSP00000348498.3:p.Cys2350=
ENST00000358273.8:c.7113C=	ENSP00000351015.4:p.Cys2371=
ENST00000456735.6:c.6048C=	ENSP00000389907.2:p.Cys2016=
ENST00000471572.6:c.496C=
ENST00000579081.5:c.7249C=	ENSP00000462408.1:n.7249C=
ENST00000581790.5:c.256C=
ENST00000582892.1:n.355C=
ENST00000584328.1:n.527C=
NM_000267.3:c.7050C= , LRG_214t1:c.7050C=	NP_000258.1:p.Cys2350=
NM_001042492.2:c.7113C= , LRG_214t2:c.7113C=	NP_001035957.1:p.Cys2371=
XM_005257983.1:c.7113C=	XP_005258040.1:p.Cys2371=
XM_005257984.1:c.7050C=	XP_005258041.1:p.Cys2350=
XM_006721922.1:c.7143C=	XP_006721985.1:p.Cys2381=
XM_006721923.2:c.7104C=	XP_006721986.1:p.Cys2368=
XM_006721924.1:c.7143C=	XP_006721987.1:p.Cys2381=
XM_006721925.1:c.7080C=	XP_006721988.1:p.Cys2360=
XM_006721926.2:c.7143C=	XP_006721989.1:p.Cys2381=
XM_006721927.1:c.7143C=	XP_006721990.1:p.Cys2381=
XM_011524852.1:c.7140C=	XP_011523154.1:p.Cys2380=
XM_011524853.1:c.7104C=	XP_011523155.1:p.Cys2368=
XM_011524854.1:c.7104C=	XP_011523156.1:p.Cys2368=
XM_011524855.1:c.7104C=	XP_011523157.1:p.Cys2368=
XM_011524856.1:c.7104C=	XP_011523158.1:p.Cys2368=
XM_011524857.1:c.7143C=	XP_011523159.1:p.Cys2381=
NM_001042492.3:c.7113C= MANE Select	NP_001035957.1:p.Cys2371=