Canonical Allele Identifier: CA399015650

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29670091A>G (hg19) ; chr17:g.31343073A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343073A>G , CM000679.2:g.31343073A>G	GRCh38
NC_000017.10:g.29670091A>G , CM000679.1:g.29670091A>G	GRCh37
NC_000017.9:g.26694217A>G	NCBI36
NG_009018.1:g.253097A>G , LRG_214:g.253097A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7109A>G	ENSP00000512431.1:p.His2370Arg
ENST00000684826.1:c.1691A>G	ENSP00000509994.1:p.His564Arg
ENST00000687027.1:c.1283A>G	ENSP00000508715.1:p.His428Arg
ENST00000687863.1:n.3772A>G
ENST00000689464.1:c.66A>G
ENST00000691014.1:c.7157A>G	ENSP00000510595.1:p.His2386Arg
ENST00000693617.1:c.1691A>G	ENSP00000510031.1:p.His564Arg
ENST00000358273.9:c.7127A>G MANE Select	ENSP00000351015.4:p.His2376Arg
ENST00000356175.7:c.7064A>G	ENSP00000348498.3:p.His2355Arg
ENST00000358273.8:c.7127A>G	ENSP00000351015.4:p.His2376Arg
ENST00000456735.6:c.6062A>G	ENSP00000389907.2:p.His2021Arg
ENST00000471572.6:c.510A>G
ENST00000579081.5:c.7263A>G	ENSP00000462408.1:n.7263A>G
ENST00000581790.5:c.270A>G
ENST00000582892.1:n.369A>G
ENST00000584328.1:n.541A>G
NM_000267.3:c.7064A>G , LRG_214t1:c.7064A>G	NP_000258.1:p.His2355Arg
NM_001042492.2:c.7127A>G , LRG_214t2:c.7127A>G	NP_001035957.1:p.His2376Arg
XM_005257983.1:c.7127A>G	XP_005258040.1:p.His2376Arg
XM_005257984.1:c.7064A>G	XP_005258041.1:p.His2355Arg
XM_006721922.1:c.7157A>G	XP_006721985.1:p.His2386Arg
XM_006721923.2:c.7118A>G	XP_006721986.1:p.His2373Arg
XM_006721924.1:c.7157A>G	XP_006721987.1:p.His2386Arg
XM_006721925.1:c.7094A>G	XP_006721988.1:p.His2365Arg
XM_006721926.2:c.7157A>G	XP_006721989.1:p.His2386Arg
XM_006721927.1:c.7157A>G	XP_006721990.1:p.His2386Arg
XM_011524852.1:c.7154A>G	XP_011523154.1:p.His2385Arg
XM_011524853.1:c.7118A>G	XP_011523155.1:p.His2373Arg
XM_011524854.1:c.7118A>G	XP_011523156.1:p.His2373Arg
XM_011524855.1:c.7118A>G	XP_011523157.1:p.His2373Arg
XM_011524856.1:c.7118A>G	XP_011523158.1:p.His2373Arg
XM_011524857.1:c.7157A>G	XP_011523159.1:p.His2386Arg
NM_001042492.3:c.7127A>G MANE Select	NP_001035957.1:p.His2376Arg