Canonical Allele Identifier: CA398994831

Gene: NF1

Linked Data

• ClinVar Variation Id: 527600
• ClinVar RCV Id: RCV000632520 ; RCV002377363
• dbSNP Id: rs1483311407
• MyVariant Identifiers: chr17:g.29576015G>A (hg19) ; chr17:g.31248997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31248997G>A , CM000679.2:g.31248997G>A	GRCh38
NC_000017.10:g.29576015G>A , CM000679.1:g.29576015G>A	GRCh37
NC_000017.9:g.26600141G>A	NCBI36
NG_009018.1:g.159021G>A , LRG_214:g.159021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.4033G>A	ENSP00000512431.1:p.Glu1345Lys
ENST00000696139.1:c.1451G>A	ENSP00000512432.1:n.1451G>A
ENST00000696140.1:n.94G>A
ENST00000687863.1:n.696G>A
ENST00000691014.1:c.4018G>A	ENSP00000510595.1:p.Glu1340Lys
ENST00000358273.9:c.3988G>A MANE Select	ENSP00000351015.4:p.Glu1330Lys
ENST00000356175.7:c.3988G>A	ENSP00000348498.3:p.Glu1330Lys
ENST00000358273.8:c.3988G>A	ENSP00000351015.4:p.Glu1330Lys
ENST00000456735.6:c.2986G>A	ENSP00000389907.2:p.Glu996Lys
ENST00000466819.5:c.464G>A
ENST00000479614.1:c.464G>A
ENST00000493220.5:n.2524G>A
ENST00000495910.6:c.3763G>A
ENST00000579081.5:c.4090G>A	ENSP00000462408.1:p.Glu1364Lys
NM_000267.3:c.3988G>A , LRG_214t1:c.3988G>A	NP_000258.1:p.Glu1330Lys
NM_001042492.2:c.3988G>A , LRG_214t2:c.3988G>A	NP_001035957.1:p.Glu1330Lys
XM_005257983.1:c.3988G>A	XP_005258040.1:p.Glu1330Lys
XM_005257984.1:c.3988G>A	XP_005258041.1:p.Glu1330Lys
XM_006721922.1:c.4018G>A	XP_006721985.1:p.Glu1340Lys
XM_006721923.2:c.3979G>A	XP_006721986.1:p.Glu1327Lys
XM_006721924.1:c.4018G>A	XP_006721987.1:p.Glu1340Lys
XM_006721925.1:c.4018G>A	XP_006721988.1:p.Glu1340Lys
XM_006721926.2:c.4018G>A	XP_006721989.1:p.Glu1340Lys
XM_006721927.1:c.4018G>A	XP_006721990.1:p.Glu1340Lys
XM_006721928.2:c.4018G>A	XP_006721991.1:p.Glu1340Lys
XM_011524852.1:c.4015G>A	XP_011523154.1:p.Glu1339Lys
XM_011524853.1:c.3979G>A	XP_011523155.1:p.Glu1327Lys
XM_011524854.1:c.3979G>A	XP_011523156.1:p.Glu1327Lys
XM_011524855.1:c.3979G>A	XP_011523157.1:p.Glu1327Lys
XM_011524856.1:c.3979G>A	XP_011523158.1:p.Glu1327Lys
XM_011524857.1:c.4018G>A	XP_011523159.1:p.Glu1340Lys
NM_001042492.3:c.3988G>A MANE Select	NP_001035957.1:p.Glu1330Lys