Canonical Allele Identifier: CA398984480

Gene: NF1

Linked Data

• ClinVar Variation Id: 1793844
• ClinVar RCV Id: RCV002426356
• dbSNP Id: rs2151429255
• COSMIC: COSM1166726 ; COSM1166727
• MyVariant Identifiers: chr17:g.29556247G>A (hg19) ; chr17:g.31229229G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229229G>A , CM000679.2:g.31229229G>A	GRCh38
NC_000017.10:g.29556247G>A , CM000679.1:g.29556247G>A	GRCh37
NC_000017.9:g.26580373G>A	NCBI36
NG_009018.1:g.139253G>A , LRG_214:g.139253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2659G>A	ENSP00000512431.1:p.Glu887Lys
ENST00000691014.1:c.2644G>A	ENSP00000510595.1:p.Glu882Lys
ENST00000358273.9:c.2614G>A MANE Select	ENSP00000351015.4:p.Glu872Lys
ENST00000356175.7:c.2614G>A	ENSP00000348498.3:p.Glu872Lys
ENST00000358273.8:c.2614G>A	ENSP00000351015.4:p.Glu872Lys
ENST00000456735.6:c.1612G>A	ENSP00000389907.2:p.Glu538Lys
ENST00000493220.5:n.781G>A
ENST00000495910.6:c.2389G>A
ENST00000579081.5:c.2716G>A	ENSP00000462408.1:p.Glu906Lys
NM_000267.3:c.2614G>A , LRG_214t1:c.2614G>A	NP_000258.1:p.Glu872Lys
NM_001042492.2:c.2614G>A , LRG_214t2:c.2614G>A	NP_001035957.1:p.Glu872Lys
XM_005257983.1:c.2614G>A	XP_005258040.1:p.Glu872Lys
XM_005257984.1:c.2614G>A	XP_005258041.1:p.Glu872Lys
XM_006721922.1:c.2644G>A	XP_006721985.1:p.Glu882Lys
XM_006721923.2:c.2605G>A	XP_006721986.1:p.Glu869Lys
XM_006721924.1:c.2644G>A	XP_006721987.1:p.Glu882Lys
XM_006721925.1:c.2644G>A	XP_006721988.1:p.Glu882Lys
XM_006721926.2:c.2644G>A	XP_006721989.1:p.Glu882Lys
XM_006721927.1:c.2644G>A	XP_006721990.1:p.Glu882Lys
XM_006721928.2:c.2644G>A	XP_006721991.1:p.Glu882Lys
XM_011524852.1:c.2641G>A	XP_011523154.1:p.Glu881Lys
XM_011524853.1:c.2605G>A	XP_011523155.1:p.Glu869Lys
XM_011524854.1:c.2605G>A	XP_011523156.1:p.Glu869Lys
XM_011524855.1:c.2605G>A	XP_011523157.1:p.Glu869Lys
XM_011524856.1:c.2605G>A	XP_011523158.1:p.Glu869Lys
XM_011524857.1:c.2644G>A	XP_011523159.1:p.Glu882Lys
NM_001042492.3:c.2614G>A MANE Select	NP_001035957.1:p.Glu872Lys