Canonical Allele Identifier: CA399015690

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29670109T>G (hg19) ; chr17:g.31343091T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343091T>G , CM000679.2:g.31343091T>G	GRCh38
NC_000017.10:g.29670109T>G , CM000679.1:g.29670109T>G	GRCh37
NC_000017.9:g.26694235T>G	NCBI36
NG_009018.1:g.253115T>G , LRG_214:g.253115T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7127T>G	ENSP00000512431.1:p.Phe2376Cys
ENST00000684826.1:c.1709T>G	ENSP00000509994.1:p.Phe570Cys
ENST00000687027.1:c.1301T>G	ENSP00000508715.1:p.Phe434Cys
ENST00000687863.1:n.3790T>G
ENST00000689464.1:c.84T>G
ENST00000691014.1:c.7175T>G	ENSP00000510595.1:p.Phe2392Cys
ENST00000693617.1:c.1709T>G	ENSP00000510031.1:p.Phe570Cys
ENST00000358273.9:c.7145T>G MANE Select	ENSP00000351015.4:p.Phe2382Cys
ENST00000356175.7:c.7082T>G	ENSP00000348498.3:p.Phe2361Cys
ENST00000358273.8:c.7145T>G	ENSP00000351015.4:p.Phe2382Cys
ENST00000456735.6:c.6080T>G	ENSP00000389907.2:p.Phe2027Cys
ENST00000471572.6:c.528T>G
ENST00000579081.5:c.7281T>G	ENSP00000462408.1:n.7281T>G
ENST00000581790.5:c.288T>G
ENST00000582892.1:n.387T>G
ENST00000584328.1:n.559T>G
NM_000267.3:c.7082T>G , LRG_214t1:c.7082T>G	NP_000258.1:p.Phe2361Cys
NM_001042492.2:c.7145T>G , LRG_214t2:c.7145T>G	NP_001035957.1:p.Phe2382Cys
XM_005257983.1:c.7145T>G	XP_005258040.1:p.Phe2382Cys
XM_005257984.1:c.7082T>G	XP_005258041.1:p.Phe2361Cys
XM_006721922.1:c.7175T>G	XP_006721985.1:p.Phe2392Cys
XM_006721923.2:c.7136T>G	XP_006721986.1:p.Phe2379Cys
XM_006721924.1:c.7175T>G	XP_006721987.1:p.Phe2392Cys
XM_006721925.1:c.7112T>G	XP_006721988.1:p.Phe2371Cys
XM_006721926.2:c.7175T>G	XP_006721989.1:p.Phe2392Cys
XM_006721927.1:c.7175T>G	XP_006721990.1:p.Phe2392Cys
XM_011524852.1:c.7172T>G	XP_011523154.1:p.Phe2391Cys
XM_011524853.1:c.7136T>G	XP_011523155.1:p.Phe2379Cys
XM_011524854.1:c.7136T>G	XP_011523156.1:p.Phe2379Cys
XM_011524855.1:c.7136T>G	XP_011523157.1:p.Phe2379Cys
XM_011524856.1:c.7136T>G	XP_011523158.1:p.Phe2379Cys
XM_011524857.1:c.7175T>G	XP_011523159.1:p.Phe2392Cys
NM_001042492.3:c.7145T>G MANE Select	NP_001035957.1:p.Phe2382Cys