Canonical Allele Identifier: CA399000246

Gene: NF1

Linked Data

• ClinVar Variation Id: 1048712
• ClinVar RCV Id: RCV001353299 ; RCV001751691
• dbSNP Id: rs2151466279
• MyVariant Identifiers: chr17:g.29588770C>A (hg19) ; chr17:g.31261752C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261752C>A , CM000679.2:g.31261752C>A	GRCh38
NC_000017.10:g.29588770C>A , CM000679.1:g.29588770C>A	GRCh37
NC_000017.9:g.26612896C>A	NCBI36
NG_009018.1:g.171776C>A , LRG_214:g.171776C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.421C>A	ENSP00000492721.2:p.Gln141Lys
ENST00000696138.1:c.4601C>A	ENSP00000512431.1:p.Ala1534Glu
ENST00000696140.1:n.725C>A
ENST00000696141.1:c.610C>A
ENST00000687863.1:n.1264C>A
ENST00000691014.1:c.4649C>A	ENSP00000510595.1:p.Ala1550Glu
ENST00000358273.9:c.4619C>A MANE Select	ENSP00000351015.4:p.Ala1540Glu
ENST00000356175.7:c.4556C>A	ENSP00000348498.3:p.Ala1519Glu
ENST00000358273.8:c.4619C>A	ENSP00000351015.4:p.Ala1540Glu
ENST00000456735.6:c.3554C>A	ENSP00000389907.2:p.Ala1185Glu
ENST00000466819.5:c.1135C>A
ENST00000479614.1:c.1072C>A
ENST00000493220.5:n.3092C>A
ENST00000579081.5:c.4658C>A	ENSP00000462408.1:p.Ala1553Glu
NM_000267.3:c.4556C>A , LRG_214t1:c.4556C>A	NP_000258.1:p.Ala1519Glu
NM_001042492.2:c.4619C>A , LRG_214t2:c.4619C>A	NP_001035957.1:p.Ala1540Glu
XM_005257983.1:c.4619C>A	XP_005258040.1:p.Ala1540Glu
XM_005257984.1:c.4556C>A	XP_005258041.1:p.Ala1519Glu
XM_006721922.1:c.4649C>A	XP_006721985.1:p.Ala1550Glu
XM_006721923.2:c.4610C>A	XP_006721986.1:p.Ala1537Glu
XM_006721924.1:c.4649C>A	XP_006721987.1:p.Ala1550Glu
XM_006721925.1:c.4586C>A	XP_006721988.1:p.Ala1529Glu
XM_006721926.2:c.4649C>A	XP_006721989.1:p.Ala1550Glu
XM_006721927.1:c.4649C>A	XP_006721990.1:p.Ala1550Glu
XM_006721928.2:c.4649C>A	XP_006721991.1:p.Ala1550Glu
XM_011524852.1:c.4646C>A	XP_011523154.1:p.Ala1549Glu
XM_011524853.1:c.4610C>A	XP_011523155.1:p.Ala1537Glu
XM_011524854.1:c.4610C>A	XP_011523156.1:p.Ala1537Glu
XM_011524855.1:c.4610C>A	XP_011523157.1:p.Ala1537Glu
XM_011524856.1:c.4610C>A	XP_011523158.1:p.Ala1537Glu
XM_011524857.1:c.4649C>A	XP_011523159.1:p.Ala1550Glu
NM_001042492.3:c.4619C>A MANE Select	NP_001035957.1:p.Ala1540Glu