Canonical Allele Identifier: CA219635

Gene: NF1

Linked Data

• ClinVar Variation Id: 68362
• ClinVar RCV Id: RCV000059216 ; RCV001337282
• dbSNP Id: rs199474784
• ExAC: 17:29670033 G / A
• gnomAD v2: 17-29670033-G-A
• gnomAD v4: 17-31343015-G-A
• MyVariant Identifiers: chr17:g.29670033G>A (hg19) ; chr17:g.31343015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343015G>A , CM000679.2:g.31343015G>A	GRCh38
NC_000017.10:g.29670033G>A , CM000679.1:g.29670033G>A	GRCh37
NC_000017.9:g.26694159G>A	NCBI36
NG_009018.1:g.253039G>A , LRG_214:g.253039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7051G>A	ENSP00000512431.1:p.Glu2351Lys
ENST00000684826.1:c.1633G>A	ENSP00000509994.1:p.Glu545Lys
ENST00000687027.1:c.1225G>A	ENSP00000508715.1:p.Glu409Lys
ENST00000687863.1:n.3714G>A
ENST00000689464.1:c.8G>A
ENST00000691014.1:c.7099G>A	ENSP00000510595.1:p.Glu2367Lys
ENST00000693617.1:c.1633G>A	ENSP00000510031.1:p.Glu545Lys
ENST00000358273.9:c.7069G>A MANE Select	ENSP00000351015.4:p.Glu2357Lys
ENST00000356175.7:c.7006G>A	ENSP00000348498.3:p.Glu2336Lys
ENST00000358273.8:c.7069G>A	ENSP00000351015.4:p.Glu2357Lys
ENST00000456735.6:c.6004G>A	ENSP00000389907.2:p.Glu2002Lys
ENST00000471572.6:c.452G>A
ENST00000579081.5:c.7205G>A	ENSP00000462408.1:n.7205G>A
ENST00000581790.5:c.212G>A
ENST00000582892.1:n.311G>A
ENST00000584328.1:n.483G>A
NM_000267.3:c.7006G>A , LRG_214t1:c.7006G>A	NP_000258.1:p.Glu2336Lys
NM_001042492.2:c.7069G>A , LRG_214t2:c.7069G>A	NP_001035957.1:p.Glu2357Lys
XM_005257983.1:c.7069G>A	XP_005258040.1:p.Glu2357Lys
XM_005257984.1:c.7006G>A	XP_005258041.1:p.Glu2336Lys
XM_006721922.1:c.7099G>A	XP_006721985.1:p.Glu2367Lys
XM_006721923.2:c.7060G>A	XP_006721986.1:p.Glu2354Lys
XM_006721924.1:c.7099G>A	XP_006721987.1:p.Glu2367Lys
XM_006721925.1:c.7036G>A	XP_006721988.1:p.Glu2346Lys
XM_006721926.2:c.7099G>A	XP_006721989.1:p.Glu2367Lys
XM_006721927.1:c.7099G>A	XP_006721990.1:p.Glu2367Lys
XM_011524852.1:c.7096G>A	XP_011523154.1:p.Glu2366Lys
XM_011524853.1:c.7060G>A	XP_011523155.1:p.Glu2354Lys
XM_011524854.1:c.7060G>A	XP_011523156.1:p.Glu2354Lys
XM_011524855.1:c.7060G>A	XP_011523157.1:p.Glu2354Lys
XM_011524856.1:c.7060G>A	XP_011523158.1:p.Glu2354Lys
XM_011524857.1:c.7099G>A	XP_011523159.1:p.Glu2367Lys
NM_001042492.3:c.7069G>A MANE Select	NP_001035957.1:p.Glu2357Lys