Canonical Allele Identifier: CA165109

Gene: NF1

Linked Data

• ClinVar Variation Id: 141323
• ClinVar RCV Id: RCV000129797 ; RCV000205307 ; RCV000680997 ; RCV001818305 ; RCV002326843 ; RCV003483497
• dbSNP Id: rs546073780
• ExAC: 17:29587482 G / A
• gnomAD v2: 17-29587482-G-A
• gnomAD v3: 17-31260464-G-A
• gnomAD v4: 17-31260464-G-A
• COSMIC: COSM327287 ; COSM327288
• MyVariant Identifiers: chr17:g.29587482G>A (hg19) ; chr17:g.31260464G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31260464G>A , CM000679.2:g.31260464G>A	GRCh38
NC_000017.10:g.29587482G>A , CM000679.1:g.29587482G>A	GRCh37
NC_000017.9:g.26611608G>A	NCBI36
NG_009018.1:g.170488G>A , LRG_214:g.170488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.314G>A	ENSP00000492721.2:p.Arg105His
ENST00000696138.1:c.4508G>A	ENSP00000512431.1:p.Arg1503His
ENST00000696140.1:n.632G>A
ENST00000696141.1:c.517G>A
ENST00000687863.1:n.1171G>A
ENST00000691014.1:c.4556G>A	ENSP00000510595.1:p.Arg1519His
ENST00000691649.1:n.1737G>A
ENST00000358273.9:c.4526G>A MANE Select	ENSP00000351015.4:p.Arg1509His
ENST00000356175.7:c.4463G>A	ENSP00000348498.3:p.Arg1488His
ENST00000358273.8:c.4526G>A	ENSP00000351015.4:p.Arg1509His
ENST00000456735.6:c.3461G>A	ENSP00000389907.2:p.Arg1154His
ENST00000466819.5:c.1042G>A
ENST00000479614.1:c.979G>A
ENST00000493220.5:n.2999G>A
ENST00000579081.5:c.4565G>A	ENSP00000462408.1:p.Arg1522His
NM_000267.3:c.4463G>A , LRG_214t1:c.4463G>A	NP_000258.1:p.Arg1488His
NM_001042492.2:c.4526G>A , LRG_214t2:c.4526G>A	NP_001035957.1:p.Arg1509His
XM_005257983.1:c.4526G>A	XP_005258040.1:p.Arg1509His
XM_005257984.1:c.4463G>A	XP_005258041.1:p.Arg1488His
XM_006721922.1:c.4556G>A	XP_006721985.1:p.Arg1519His
XM_006721923.2:c.4517G>A	XP_006721986.1:p.Arg1506His
XM_006721924.1:c.4556G>A	XP_006721987.1:p.Arg1519His
XM_006721925.1:c.4493G>A	XP_006721988.1:p.Arg1498His
XM_006721926.2:c.4556G>A	XP_006721989.1:p.Arg1519His
XM_006721927.1:c.4556G>A	XP_006721990.1:p.Arg1519His
XM_006721928.2:c.4556G>A	XP_006721991.1:p.Arg1519His
XM_011524852.1:c.4553G>A	XP_011523154.1:p.Arg1518His
XM_011524853.1:c.4517G>A	XP_011523155.1:p.Arg1506His
XM_011524854.1:c.4517G>A	XP_011523156.1:p.Arg1506His
XM_011524855.1:c.4517G>A	XP_011523157.1:p.Arg1506His
XM_011524856.1:c.4517G>A	XP_011523158.1:p.Arg1506His
XM_011524857.1:c.4556G>A	XP_011523159.1:p.Arg1519His
NM_001042492.3:c.4526G>A MANE Select	NP_001035957.1:p.Arg1509His