Canonical Allele Identifier: CA399013979

Gene: NF1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6689T>A	ENSP00000512431.1:p.Phe2230Tyr
ENST00000684826.1:c.1271T>A	ENSP00000509994.1:p.Phe424Tyr
ENST00000684998.1:n.1965T>A
ENST00000687027.1:c.863T>A	ENSP00000508715.1:p.Phe288Tyr
ENST00000687863.1:n.3352T>A
ENST00000691014.1:c.6737T>A	ENSP00000510595.1:p.Phe2246Tyr
ENST00000693617.1:c.1271T>A	ENSP00000510031.1:p.Phe424Tyr
ENST00000358273.9:c.6707T>A MANE Select	ENSP00000351015.4:p.Phe2236Tyr
ENST00000356175.7:c.6644T>A	ENSP00000348498.3:p.Phe2215Tyr
ENST00000358273.8:c.6707T>A	ENSP00000351015.4:p.Phe2236Tyr
ENST00000456735.6:c.5642T>A	ENSP00000389907.2:p.Phe1881Tyr
ENST00000471572.6:c.90T>A
ENST00000579081.5:c.6843T>A	ENSP00000462408.1:n.6843T>A
ENST00000581790.5:c.64+147T>A
ENST00000584328.1:n.121T>A
NM_000267.3:c.6644T>A , LRG_214t1:c.6644T>A	NP_000258.1:p.Phe2215Tyr
NM_001042492.2:c.6707T>A , LRG_214t2:c.6707T>A	NP_001035957.1:p.Phe2236Tyr
XM_005257983.1:c.6707T>A	XP_005258040.1:p.Phe2236Tyr
XM_005257984.1:c.6644T>A	XP_005258041.1:p.Phe2215Tyr
XM_006721922.1:c.6737T>A	XP_006721985.1:p.Phe2246Tyr
XM_006721923.2:c.6698T>A	XP_006721986.1:p.Phe2233Tyr
XM_006721924.1:c.6737T>A	XP_006721987.1:p.Phe2246Tyr
XM_006721925.1:c.6674T>A	XP_006721988.1:p.Phe2225Tyr
XM_006721926.2:c.6737T>A	XP_006721989.1:p.Phe2246Tyr
XM_006721927.1:c.6737T>A	XP_006721990.1:p.Phe2246Tyr
XM_011524852.1:c.6734T>A	XP_011523154.1:p.Phe2245Tyr
XM_011524853.1:c.6698T>A	XP_011523155.1:p.Phe2233Tyr
XM_011524854.1:c.6698T>A	XP_011523156.1:p.Phe2233Tyr
XM_011524855.1:c.6698T>A	XP_011523157.1:p.Phe2233Tyr
XM_011524856.1:c.6698T>A	XP_011523158.1:p.Phe2233Tyr
XM_011524857.1:c.6737T>A	XP_011523159.1:p.Phe2246Tyr
NM_001042492.3:c.6707T>A MANE Select	NP_001035957.1:p.Phe2236Tyr