Canonical Allele Identifier: CA399014387

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29665789T>G (hg19) ; chr17:g.31338771T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338771T>G , CM000679.2:g.31338771T>G	GRCh38
NC_000017.10:g.29665789T>G , CM000679.1:g.29665789T>G	GRCh37
NC_000017.9:g.26689915T>G	NCBI36
NG_009018.1:g.248795T>G , LRG_214:g.248795T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6869T>G	ENSP00000512431.1:p.Ile2290Arg
ENST00000684826.1:c.1451T>G	ENSP00000509994.1:p.Ile484Arg
ENST00000684998.1:n.2709T>G
ENST00000687027.1:c.1043T>G	ENSP00000508715.1:p.Ile348Arg
ENST00000687863.1:n.3532T>G
ENST00000691014.1:c.6917T>G	ENSP00000510595.1:p.Ile2306Arg
ENST00000693617.1:c.1451T>G	ENSP00000510031.1:p.Ile484Arg
ENST00000358273.9:c.6887T>G MANE Select	ENSP00000351015.4:p.Ile2296Arg
ENST00000356175.7:c.6824T>G	ENSP00000348498.3:p.Ile2275Arg
ENST00000358273.8:c.6887T>G	ENSP00000351015.4:p.Ile2296Arg
ENST00000456735.6:c.5822T>G	ENSP00000389907.2:p.Ile1941Arg
ENST00000471572.6:c.270T>G
ENST00000579081.5:c.7023T>G	ENSP00000462408.1:n.7023T>G
ENST00000581790.5:c.64+891T>G
ENST00000584328.1:n.301T>G
NM_000267.3:c.6824T>G , LRG_214t1:c.6824T>G	NP_000258.1:p.Ile2275Arg
NM_001042492.2:c.6887T>G , LRG_214t2:c.6887T>G	NP_001035957.1:p.Ile2296Arg
XM_005257983.1:c.6887T>G	XP_005258040.1:p.Ile2296Arg
XM_005257984.1:c.6824T>G	XP_005258041.1:p.Ile2275Arg
XM_006721922.1:c.6917T>G	XP_006721985.1:p.Ile2306Arg
XM_006721923.2:c.6878T>G	XP_006721986.1:p.Ile2293Arg
XM_006721924.1:c.6917T>G	XP_006721987.1:p.Ile2306Arg
XM_006721925.1:c.6854T>G	XP_006721988.1:p.Ile2285Arg
XM_006721926.2:c.6917T>G	XP_006721989.1:p.Ile2306Arg
XM_006721927.1:c.6917T>G	XP_006721990.1:p.Ile2306Arg
XM_011524852.1:c.6914T>G	XP_011523154.1:p.Ile2305Arg
XM_011524853.1:c.6878T>G	XP_011523155.1:p.Ile2293Arg
XM_011524854.1:c.6878T>G	XP_011523156.1:p.Ile2293Arg
XM_011524855.1:c.6878T>G	XP_011523157.1:p.Ile2293Arg
XM_011524856.1:c.6878T>G	XP_011523158.1:p.Ile2293Arg
XM_011524857.1:c.6917T>G	XP_011523159.1:p.Ile2306Arg
NM_001042492.3:c.6887T>G MANE Select	NP_001035957.1:p.Ile2296Arg