Canonical Allele Identifier: CA499234328

Gene: NF1

Linked Data

• ClinVar Variation Id: 1611488
• ClinVar RCV Id: RCV002166017
• dbSNP Id: rs144287929
• MyVariant Identifiers: chr17:g.29665739A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338721A>G , CM000679.2:g.31338721A>G	GRCh38
NC_000017.10:g.29665739A>G , CM000679.1:g.29665739A>G	GRCh37
NC_000017.9:g.26689865A>G	NCBI36
NG_009018.1:g.248745A>G , LRG_214:g.248745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6819A>G	ENSP00000512431.1:p.Leu2273=
ENST00000684826.1:c.1401A>G	ENSP00000509994.1:p.Leu467=
ENST00000684998.1:n.2659A>G
ENST00000687027.1:c.993A>G	ENSP00000508715.1:p.Leu331=
ENST00000687863.1:n.3482A>G
ENST00000691014.1:c.6867A>G	ENSP00000510595.1:p.Leu2289=
ENST00000693617.1:c.1401A>G	ENSP00000510031.1:p.Leu467=
ENST00000358273.9:c.6837A>G MANE Select	ENSP00000351015.4:p.Leu2279=
ENST00000356175.7:c.6774A>G	ENSP00000348498.3:p.Leu2258=
ENST00000358273.8:c.6837A>G	ENSP00000351015.4:p.Leu2279=
ENST00000456735.6:c.5772A>G	ENSP00000389907.2:p.Leu1924=
ENST00000471572.6:c.220A>G
ENST00000579081.5:c.6973A>G	ENSP00000462408.1:n.6973A>G
ENST00000581790.5:c.64+841A>G
ENST00000584328.1:n.251A>G
NM_000267.3:c.6774A>G , LRG_214t1:c.6774A>G	NP_000258.1:p.Leu2258=
NM_001042492.2:c.6837A>G , LRG_214t2:c.6837A>G	NP_001035957.1:p.Leu2279=
XM_005257983.1:c.6837A>G	XP_005258040.1:p.Leu2279=
XM_005257984.1:c.6774A>G	XP_005258041.1:p.Leu2258=
XM_006721922.1:c.6867A>G	XP_006721985.1:p.Leu2289=
XM_006721923.2:c.6828A>G	XP_006721986.1:p.Leu2276=
XM_006721924.1:c.6867A>G	XP_006721987.1:p.Leu2289=
XM_006721925.1:c.6804A>G	XP_006721988.1:p.Leu2268=
XM_006721926.2:c.6867A>G	XP_006721989.1:p.Leu2289=
XM_006721927.1:c.6867A>G	XP_006721990.1:p.Leu2289=
XM_011524852.1:c.6864A>G	XP_011523154.1:p.Leu2288=
XM_011524853.1:c.6828A>G	XP_011523155.1:p.Leu2276=
XM_011524854.1:c.6828A>G	XP_011523156.1:p.Leu2276=
XM_011524855.1:c.6828A>G	XP_011523157.1:p.Leu2276=
XM_011524856.1:c.6828A>G	XP_011523158.1:p.Leu2276=
XM_011524857.1:c.6867A>G	XP_011523159.1:p.Leu2289=
NM_001042492.3:c.6837A>G MANE Select	NP_001035957.1:p.Leu2279=