Canonical Allele Identifier: CA399014249

Gene: NF1

Linked Data

• ClinVar Variation Id: 1446793
• ClinVar RCV Id: RCV001996625 ; RCV002361287
• dbSNP Id: rs2069742475
• MyVariant Identifiers: chr17:g.29665728G>A (hg19) ; chr17:g.31338710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338710G>A , CM000679.2:g.31338710G>A	GRCh38
NC_000017.10:g.29665728G>A , CM000679.1:g.29665728G>A	GRCh37
NC_000017.9:g.26689854G>A	NCBI36
NG_009018.1:g.248734G>A , LRG_214:g.248734G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6808G>A	ENSP00000512431.1:p.Glu2270Lys
ENST00000684826.1:c.1390G>A	ENSP00000509994.1:p.Glu464Lys
ENST00000684998.1:n.2648G>A
ENST00000687027.1:c.982G>A	ENSP00000508715.1:p.Glu328Lys
ENST00000687863.1:n.3471G>A
ENST00000691014.1:c.6856G>A	ENSP00000510595.1:p.Glu2286Lys
ENST00000693617.1:c.1390G>A	ENSP00000510031.1:p.Glu464Lys
ENST00000358273.9:c.6826G>A MANE Select	ENSP00000351015.4:p.Glu2276Lys
ENST00000356175.7:c.6763G>A	ENSP00000348498.3:p.Glu2255Lys
ENST00000358273.8:c.6826G>A	ENSP00000351015.4:p.Glu2276Lys
ENST00000456735.6:c.5761G>A	ENSP00000389907.2:p.Glu1921Lys
ENST00000471572.6:c.209G>A
ENST00000579081.5:c.6962G>A	ENSP00000462408.1:n.6962G>A
ENST00000581790.5:c.64+830G>A
ENST00000584328.1:n.240G>A
NM_000267.3:c.6763G>A , LRG_214t1:c.6763G>A	NP_000258.1:p.Glu2255Lys
NM_001042492.2:c.6826G>A , LRG_214t2:c.6826G>A	NP_001035957.1:p.Glu2276Lys
XM_005257983.1:c.6826G>A	XP_005258040.1:p.Glu2276Lys
XM_005257984.1:c.6763G>A	XP_005258041.1:p.Glu2255Lys
XM_006721922.1:c.6856G>A	XP_006721985.1:p.Glu2286Lys
XM_006721923.2:c.6817G>A	XP_006721986.1:p.Glu2273Lys
XM_006721924.1:c.6856G>A	XP_006721987.1:p.Glu2286Lys
XM_006721925.1:c.6793G>A	XP_006721988.1:p.Glu2265Lys
XM_006721926.2:c.6856G>A	XP_006721989.1:p.Glu2286Lys
XM_006721927.1:c.6856G>A	XP_006721990.1:p.Glu2286Lys
XM_011524852.1:c.6853G>A	XP_011523154.1:p.Glu2285Lys
XM_011524853.1:c.6817G>A	XP_011523155.1:p.Glu2273Lys
XM_011524854.1:c.6817G>A	XP_011523156.1:p.Glu2273Lys
XM_011524855.1:c.6817G>A	XP_011523157.1:p.Glu2273Lys
XM_011524856.1:c.6817G>A	XP_011523158.1:p.Glu2273Lys
XM_011524857.1:c.6856G>A	XP_011523159.1:p.Glu2286Lys
NM_001042492.3:c.6826G>A MANE Select	NP_001035957.1:p.Glu2276Lys