Canonical Allele Identifier: CA399010505

Gene: NF1

Linked Data

• ClinVar Variation Id: 1058629
• ClinVar RCV Id: RCV001367789 ; RCV002350699
• dbSNP Id: rs2151544987
• gnomAD v4: 17-31330487-T-G
• MyVariant Identifiers: chr17:g.29657505T>G (hg19) ; chr17:g.31330487T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330487T>G , CM000679.2:g.31330487T>G	GRCh38
NC_000017.10:g.29657505T>G , CM000679.1:g.29657505T>G	GRCh37
NC_000017.9:g.26681631T>G	NCBI36
NG_009018.1:g.240511T>G , LRG_214:g.240511T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1989T>G	ENSP00000492721.2:n.1989T>G
ENST00000696138.1:c.5783T>G	ENSP00000512431.1:p.Phe1928Cys
ENST00000684826.1:c.365T>G	ENSP00000509994.1:p.Phe122Cys
ENST00000687027.1:c.-44T>G	ENSP00000508715.1:n.-44T>G
ENST00000687863.1:n.2446T>G
ENST00000691014.1:c.5831T>G	ENSP00000510595.1:p.Phe1944Cys
ENST00000693617.1:c.365T>G	ENSP00000510031.1:p.Phe122Cys
ENST00000358273.9:c.5801T>G MANE Select	ENSP00000351015.4:p.Phe1934Cys
ENST00000356175.7:c.5738T>G	ENSP00000348498.3:p.Phe1913Cys
ENST00000358273.8:c.5801T>G	ENSP00000351015.4:p.Phe1934Cys
ENST00000456735.6:c.4736T>G	ENSP00000389907.2:p.Phe1579Cys
ENST00000479536.2:c.159T>G
ENST00000493220.5:n.4274T>G
ENST00000579081.5:c.5937T>G	ENSP00000462408.1:n.5937T>G
ENST00000581113.6:n.1118T>G
NM_000267.3:c.5738T>G , LRG_214t1:c.5738T>G	NP_000258.1:p.Phe1913Cys
NM_001042492.2:c.5801T>G , LRG_214t2:c.5801T>G	NP_001035957.1:p.Phe1934Cys
XM_005257983.1:c.5801T>G	XP_005258040.1:p.Phe1934Cys
XM_005257984.1:c.5738T>G	XP_005258041.1:p.Phe1913Cys
XM_006721922.1:c.5831T>G	XP_006721985.1:p.Phe1944Cys
XM_006721923.2:c.5792T>G	XP_006721986.1:p.Phe1931Cys
XM_006721924.1:c.5831T>G	XP_006721987.1:p.Phe1944Cys
XM_006721925.1:c.5768T>G	XP_006721988.1:p.Phe1923Cys
XM_006721926.2:c.5831T>G	XP_006721989.1:p.Phe1944Cys
XM_006721927.1:c.5831T>G	XP_006721990.1:p.Phe1944Cys
XM_011524852.1:c.5828T>G	XP_011523154.1:p.Phe1943Cys
XM_011524853.1:c.5792T>G	XP_011523155.1:p.Phe1931Cys
XM_011524854.1:c.5792T>G	XP_011523156.1:p.Phe1931Cys
XM_011524855.1:c.5792T>G	XP_011523157.1:p.Phe1931Cys
XM_011524856.1:c.5792T>G	XP_011523158.1:p.Phe1931Cys
XM_011524857.1:c.5831T>G	XP_011523159.1:p.Phe1944Cys
NM_001042492.3:c.5801T>G MANE Select	NP_001035957.1:p.Phe1934Cys