Canonical Allele Identifier: CA399013976

Gene: NF1

Linked Data

• ClinVar Variation Id: 1358140
• ClinVar RCV Id: RCV001878551
• dbSNP Id: rs2151558031
• MyVariant Identifiers: chr17:g.29665044T>A (hg19) ; chr17:g.31338026T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338026T>A , CM000679.2:g.31338026T>A	GRCh38
NC_000017.10:g.29665044T>A , CM000679.1:g.29665044T>A	GRCh37
NC_000017.9:g.26689170T>A	NCBI36
NG_009018.1:g.248050T>A , LRG_214:g.248050T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6688T>A	ENSP00000512431.1:p.Phe2230Ile
ENST00000684826.1:c.1270T>A	ENSP00000509994.1:p.Phe424Ile
ENST00000684998.1:n.1964T>A
ENST00000687027.1:c.862T>A	ENSP00000508715.1:p.Phe288Ile
ENST00000687863.1:n.3351T>A
ENST00000691014.1:c.6736T>A	ENSP00000510595.1:p.Phe2246Ile
ENST00000693617.1:c.1270T>A	ENSP00000510031.1:p.Phe424Ile
ENST00000358273.9:c.6706T>A MANE Select	ENSP00000351015.4:p.Phe2236Ile
ENST00000356175.7:c.6643T>A	ENSP00000348498.3:p.Phe2215Ile
ENST00000358273.8:c.6706T>A	ENSP00000351015.4:p.Phe2236Ile
ENST00000456735.6:c.5641T>A	ENSP00000389907.2:p.Phe1881Ile
ENST00000471572.6:c.89T>A
ENST00000579081.5:c.6842T>A	ENSP00000462408.1:n.6842T>A
ENST00000581790.5:c.64+146T>A
ENST00000584328.1:n.120T>A
NM_000267.3:c.6643T>A , LRG_214t1:c.6643T>A	NP_000258.1:p.Phe2215Ile
NM_001042492.2:c.6706T>A , LRG_214t2:c.6706T>A	NP_001035957.1:p.Phe2236Ile
XM_005257983.1:c.6706T>A	XP_005258040.1:p.Phe2236Ile
XM_005257984.1:c.6643T>A	XP_005258041.1:p.Phe2215Ile
XM_006721922.1:c.6736T>A	XP_006721985.1:p.Phe2246Ile
XM_006721923.2:c.6697T>A	XP_006721986.1:p.Phe2233Ile
XM_006721924.1:c.6736T>A	XP_006721987.1:p.Phe2246Ile
XM_006721925.1:c.6673T>A	XP_006721988.1:p.Phe2225Ile
XM_006721926.2:c.6736T>A	XP_006721989.1:p.Phe2246Ile
XM_006721927.1:c.6736T>A	XP_006721990.1:p.Phe2246Ile
XM_011524852.1:c.6733T>A	XP_011523154.1:p.Phe2245Ile
XM_011524853.1:c.6697T>A	XP_011523155.1:p.Phe2233Ile
XM_011524854.1:c.6697T>A	XP_011523156.1:p.Phe2233Ile
XM_011524855.1:c.6697T>A	XP_011523157.1:p.Phe2233Ile
XM_011524856.1:c.6697T>A	XP_011523158.1:p.Phe2233Ile
XM_011524857.1:c.6736T>A	XP_011523159.1:p.Phe2246Ile
NM_001042492.3:c.6706T>A MANE Select	NP_001035957.1:p.Phe2236Ile