Canonical Allele Identifier: CA499234141

Gene: NF1

Linked Data

• ClinVar Variation Id: 1655873
• ClinVar RCV Id: RCV002168811 ; RCV002337384
• dbSNP Id: rs1567865021
• MyVariant Identifiers: chr17:g.29592292A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265274A>G , CM000679.2:g.31265274A>G	GRCh38
NC_000017.10:g.29592292A>G , CM000679.1:g.29592292A>G	GRCh37
NC_000017.9:g.26616418A>G	NCBI36
NG_009018.1:g.175298A>G , LRG_214:g.175298A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.572A>G	ENSP00000492721.2:n.572A>G
ENST00000696138.1:c.4752A>G	ENSP00000512431.1:p.Leu1584=
ENST00000696140.1:n.876A>G
ENST00000696141.1:c.761A>G
ENST00000687863.1:n.1415A>G
ENST00000691014.1:c.4800A>G	ENSP00000510595.1:p.Leu1600=
ENST00000358273.9:c.4770A>G MANE Select	ENSP00000351015.4:p.Leu1590=
ENST00000356175.7:c.4707A>G	ENSP00000348498.3:p.Leu1569=
ENST00000358273.8:c.4770A>G	ENSP00000351015.4:p.Leu1590=
ENST00000456735.6:c.3705A>G	ENSP00000389907.2:p.Leu1235=
ENST00000493220.5:n.3243A>G
ENST00000579081.5:c.4809A>G	ENSP00000462408.1:p.Leu1603=
NM_000267.3:c.4707A>G , LRG_214t1:c.4707A>G	NP_000258.1:p.Leu1569=
NM_001042492.2:c.4770A>G , LRG_214t2:c.4770A>G	NP_001035957.1:p.Leu1590=
XM_005257983.1:c.4770A>G	XP_005258040.1:p.Leu1590=
XM_005257984.1:c.4707A>G	XP_005258041.1:p.Leu1569=
XM_006721922.1:c.4800A>G	XP_006721985.1:p.Leu1600=
XM_006721923.2:c.4761A>G	XP_006721986.1:p.Leu1587=
XM_006721924.1:c.4800A>G	XP_006721987.1:p.Leu1600=
XM_006721925.1:c.4737A>G	XP_006721988.1:p.Leu1579=
XM_006721926.2:c.4800A>G	XP_006721989.1:p.Leu1600=
XM_006721927.1:c.4800A>G	XP_006721990.1:p.Leu1600=
XM_006721928.2:c.4800A>G	XP_006721991.1:p.Leu1600=
XM_011524852.1:c.4797A>G	XP_011523154.1:p.Leu1599=
XM_011524853.1:c.4761A>G	XP_011523155.1:p.Leu1587=
XM_011524854.1:c.4761A>G	XP_011523156.1:p.Leu1587=
XM_011524855.1:c.4761A>G	XP_011523157.1:p.Leu1587=
XM_011524856.1:c.4761A>G	XP_011523158.1:p.Leu1587=
XM_011524857.1:c.4800A>G	XP_011523159.1:p.Leu1600=
NM_001042492.3:c.4770A>G MANE Select	NP_001035957.1:p.Leu1590=