Canonical Allele Identifier: CA399013981

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29665045T>G (hg19) ; chr17:g.31338027T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338027T>G , CM000679.2:g.31338027T>G	GRCh38
NC_000017.10:g.29665045T>G , CM000679.1:g.29665045T>G	GRCh37
NC_000017.9:g.26689171T>G	NCBI36
NG_009018.1:g.248051T>G , LRG_214:g.248051T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6689T>G	ENSP00000512431.1:p.Phe2230Cys
ENST00000684826.1:c.1271T>G	ENSP00000509994.1:p.Phe424Cys
ENST00000684998.1:n.1965T>G
ENST00000687027.1:c.863T>G	ENSP00000508715.1:p.Phe288Cys
ENST00000687863.1:n.3352T>G
ENST00000691014.1:c.6737T>G	ENSP00000510595.1:p.Phe2246Cys
ENST00000693617.1:c.1271T>G	ENSP00000510031.1:p.Phe424Cys
ENST00000358273.9:c.6707T>G MANE Select	ENSP00000351015.4:p.Phe2236Cys
ENST00000356175.7:c.6644T>G	ENSP00000348498.3:p.Phe2215Cys
ENST00000358273.8:c.6707T>G	ENSP00000351015.4:p.Phe2236Cys
ENST00000456735.6:c.5642T>G	ENSP00000389907.2:p.Phe1881Cys
ENST00000471572.6:c.90T>G
ENST00000579081.5:c.6843T>G	ENSP00000462408.1:n.6843T>G
ENST00000581790.5:c.64+147T>G
ENST00000584328.1:n.121T>G
NM_000267.3:c.6644T>G , LRG_214t1:c.6644T>G	NP_000258.1:p.Phe2215Cys
NM_001042492.2:c.6707T>G , LRG_214t2:c.6707T>G	NP_001035957.1:p.Phe2236Cys
XM_005257983.1:c.6707T>G	XP_005258040.1:p.Phe2236Cys
XM_005257984.1:c.6644T>G	XP_005258041.1:p.Phe2215Cys
XM_006721922.1:c.6737T>G	XP_006721985.1:p.Phe2246Cys
XM_006721923.2:c.6698T>G	XP_006721986.1:p.Phe2233Cys
XM_006721924.1:c.6737T>G	XP_006721987.1:p.Phe2246Cys
XM_006721925.1:c.6674T>G	XP_006721988.1:p.Phe2225Cys
XM_006721926.2:c.6737T>G	XP_006721989.1:p.Phe2246Cys
XM_006721927.1:c.6737T>G	XP_006721990.1:p.Phe2246Cys
XM_011524852.1:c.6734T>G	XP_011523154.1:p.Phe2245Cys
XM_011524853.1:c.6698T>G	XP_011523155.1:p.Phe2233Cys
XM_011524854.1:c.6698T>G	XP_011523156.1:p.Phe2233Cys
XM_011524855.1:c.6698T>G	XP_011523157.1:p.Phe2233Cys
XM_011524856.1:c.6698T>G	XP_011523158.1:p.Phe2233Cys
XM_011524857.1:c.6737T>G	XP_011523159.1:p.Phe2246Cys
NM_001042492.3:c.6707T>G MANE Select	NP_001035957.1:p.Phe2236Cys