Canonical Allele Identifier: CA219405

Gene: NF1

Linked Data

• ClinVar Variation Id: 68304
• ClinVar RCV Id: RCV000059156 ; RCV001290895
• dbSNP Id: rs199474774
• MyVariant Identifiers: chr17:g.29550473T>G (hg19) ; chr17:g.31223455T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31223455T>G , CM000679.2:g.31223455T>G	GRCh38
NC_000017.10:g.29550473T>G , CM000679.1:g.29550473T>G	GRCh37
NC_000017.9:g.26574599T>G	NCBI36
NG_009018.1:g.133479T>G , LRG_214:g.133479T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.1778T>G	ENSP00000512431.1:p.Leu593Arg
ENST00000691014.1:c.1763T>G	ENSP00000510595.1:p.Leu588Arg
ENST00000358273.9:c.1733T>G MANE Select	ENSP00000351015.4:p.Leu578Arg
ENST00000356175.7:c.1733T>G	ENSP00000348498.3:p.Leu578Arg
ENST00000358273.8:c.1733T>G	ENSP00000351015.4:p.Leu578Arg
ENST00000456735.6:c.731T>G	ENSP00000389907.2:p.Leu244Arg
ENST00000495910.6:c.1508T>G
ENST00000579081.5:c.1835T>G	ENSP00000462408.1:p.Leu612Arg
NM_000267.3:c.1733T>G , LRG_214t1:c.1733T>G	NP_000258.1:p.Leu578Arg
NM_001042492.2:c.1733T>G , LRG_214t2:c.1733T>G	NP_001035957.1:p.Leu578Arg
XM_005257983.1:c.1733T>G	XP_005258040.1:p.Leu578Arg
XM_005257984.1:c.1733T>G	XP_005258041.1:p.Leu578Arg
XM_006721922.1:c.1763T>G	XP_006721985.1:p.Leu588Arg
XM_006721923.2:c.1724T>G	XP_006721986.1:p.Leu575Arg
XM_006721924.1:c.1763T>G	XP_006721987.1:p.Leu588Arg
XM_006721925.1:c.1763T>G	XP_006721988.1:p.Leu588Arg
XM_006721926.2:c.1763T>G	XP_006721989.1:p.Leu588Arg
XM_006721927.1:c.1763T>G	XP_006721990.1:p.Leu588Arg
XM_006721928.2:c.1763T>G	XP_006721991.1:p.Leu588Arg
XM_011524852.1:c.1763T>G	XP_011523154.1:p.Leu588Arg
XM_011524853.1:c.1724T>G	XP_011523155.1:p.Leu575Arg
XM_011524854.1:c.1724T>G	XP_011523156.1:p.Leu575Arg
XM_011524855.1:c.1724T>G	XP_011523157.1:p.Leu575Arg
XM_011524856.1:c.1724T>G	XP_011523158.1:p.Leu575Arg
XM_011524857.1:c.1763T>G	XP_011523159.1:p.Leu588Arg
NM_001042492.3:c.1733T>G MANE Select	NP_001035957.1:p.Leu578Arg