Canonical Allele Identifier: CA197179

Gene: NF1

Linked Data

• ClinVar Variation Id: 187263
• ClinVar RCV Id: RCV000166979 ; RCV002515167
• dbSNP Id: rs786203596
• MyVariant Identifiers: chr17:g.29670034A>G (hg19) ; chr17:g.31343016A>G (hg38)
• PubMed: PMID:11735023

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343016A>G , CM000679.2:g.31343016A>G	GRCh38
NC_000017.10:g.29670034A>G , CM000679.1:g.29670034A>G	GRCh37
NC_000017.9:g.26694160A>G	NCBI36
NG_009018.1:g.253040A>G , LRG_214:g.253040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7052A>G	ENSP00000512431.1:p.Glu2351Gly
ENST00000684826.1:c.1634A>G	ENSP00000509994.1:p.Glu545Gly
ENST00000687027.1:c.1226A>G	ENSP00000508715.1:p.Glu409Gly
ENST00000687863.1:n.3715A>G
ENST00000689464.1:c.9A>G
ENST00000691014.1:c.7100A>G	ENSP00000510595.1:p.Glu2367Gly
ENST00000693617.1:c.1634A>G	ENSP00000510031.1:p.Glu545Gly
ENST00000358273.9:c.7070A>G MANE Select	ENSP00000351015.4:p.Glu2357Gly
ENST00000356175.7:c.7007A>G	ENSP00000348498.3:p.Glu2336Gly
ENST00000358273.8:c.7070A>G	ENSP00000351015.4:p.Glu2357Gly
ENST00000456735.6:c.6005A>G	ENSP00000389907.2:p.Glu2002Gly
ENST00000471572.6:c.453A>G
ENST00000579081.5:c.7206A>G	ENSP00000462408.1:n.7206A>G
ENST00000581790.5:c.213A>G
ENST00000582892.1:n.312A>G
ENST00000584328.1:n.484A>G
NM_000267.3:c.7007A>G , LRG_214t1:c.7007A>G	NP_000258.1:p.Glu2336Gly
NM_001042492.2:c.7070A>G , LRG_214t2:c.7070A>G	NP_001035957.1:p.Glu2357Gly
XM_005257983.1:c.7070A>G	XP_005258040.1:p.Glu2357Gly
XM_005257984.1:c.7007A>G	XP_005258041.1:p.Glu2336Gly
XM_006721922.1:c.7100A>G	XP_006721985.1:p.Glu2367Gly
XM_006721923.2:c.7061A>G	XP_006721986.1:p.Glu2354Gly
XM_006721924.1:c.7100A>G	XP_006721987.1:p.Glu2367Gly
XM_006721925.1:c.7037A>G	XP_006721988.1:p.Glu2346Gly
XM_006721926.2:c.7100A>G	XP_006721989.1:p.Glu2367Gly
XM_006721927.1:c.7100A>G	XP_006721990.1:p.Glu2367Gly
XM_011524852.1:c.7097A>G	XP_011523154.1:p.Glu2366Gly
XM_011524853.1:c.7061A>G	XP_011523155.1:p.Glu2354Gly
XM_011524854.1:c.7061A>G	XP_011523156.1:p.Glu2354Gly
XM_011524855.1:c.7061A>G	XP_011523157.1:p.Glu2354Gly
XM_011524856.1:c.7061A>G	XP_011523158.1:p.Glu2354Gly
XM_011524857.1:c.7100A>G	XP_011523159.1:p.Glu2367Gly
NM_001042492.3:c.7070A>G MANE Select	NP_001035957.1:p.Glu2357Gly