Canonical Allele Identifier: CA399013977

Gene: NF1

Linked Data

• ClinVar Variation Id: 1718139
• ClinVar RCV Id: RCV002296590
• MyVariant Identifiers: chr17:g.29665044T>C (hg19) ; chr17:g.31338026T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6688T>C	ENSP00000512431.1:p.Phe2230Leu
ENST00000684826.1:c.1270T>C	ENSP00000509994.1:p.Phe424Leu
ENST00000684998.1:n.1964T>C
ENST00000687027.1:c.862T>C	ENSP00000508715.1:p.Phe288Leu
ENST00000687863.1:n.3351T>C
ENST00000691014.1:c.6736T>C	ENSP00000510595.1:p.Phe2246Leu
ENST00000693617.1:c.1270T>C	ENSP00000510031.1:p.Phe424Leu
ENST00000358273.9:c.6706T>C MANE Select	ENSP00000351015.4:p.Phe2236Leu
ENST00000356175.7:c.6643T>C	ENSP00000348498.3:p.Phe2215Leu
ENST00000358273.8:c.6706T>C	ENSP00000351015.4:p.Phe2236Leu
ENST00000456735.6:c.5641T>C	ENSP00000389907.2:p.Phe1881Leu
ENST00000471572.6:c.89T>C
ENST00000579081.5:c.6842T>C	ENSP00000462408.1:n.6842T>C
ENST00000581790.5:c.64+146T>C
ENST00000584328.1:n.120T>C
NM_000267.3:c.6643T>C , LRG_214t1:c.6643T>C	NP_000258.1:p.Phe2215Leu
NM_001042492.2:c.6706T>C , LRG_214t2:c.6706T>C	NP_001035957.1:p.Phe2236Leu
XM_005257983.1:c.6706T>C	XP_005258040.1:p.Phe2236Leu
XM_005257984.1:c.6643T>C	XP_005258041.1:p.Phe2215Leu
XM_006721922.1:c.6736T>C	XP_006721985.1:p.Phe2246Leu
XM_006721923.2:c.6697T>C	XP_006721986.1:p.Phe2233Leu
XM_006721924.1:c.6736T>C	XP_006721987.1:p.Phe2246Leu
XM_006721925.1:c.6673T>C	XP_006721988.1:p.Phe2225Leu
XM_006721926.2:c.6736T>C	XP_006721989.1:p.Phe2246Leu
XM_006721927.1:c.6736T>C	XP_006721990.1:p.Phe2246Leu
XM_011524852.1:c.6733T>C	XP_011523154.1:p.Phe2245Leu
XM_011524853.1:c.6697T>C	XP_011523155.1:p.Phe2233Leu
XM_011524854.1:c.6697T>C	XP_011523156.1:p.Phe2233Leu
XM_011524855.1:c.6697T>C	XP_011523157.1:p.Phe2233Leu
XM_011524856.1:c.6697T>C	XP_011523158.1:p.Phe2233Leu
XM_011524857.1:c.6736T>C	XP_011523159.1:p.Phe2246Leu
NM_001042492.3:c.6706T>C MANE Select	NP_001035957.1:p.Phe2236Leu