Canonical Allele Identifier: CA399014068

Gene: NF1

Linked Data

• ClinVar Variation Id: 2699150
• ClinVar RCV Id: RCV003495557
• dbSNP Id: rs2151558155
• COSMIC: COSM4385001 ; COSM4385002 ; COSM4385003
• MyVariant Identifiers: chr17:g.29665083C>T (hg19) ; chr17:g.31338065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338065C>T , CM000679.2:g.31338065C>T	GRCh38
NC_000017.10:g.29665083C>T , CM000679.1:g.29665083C>T	GRCh37
NC_000017.9:g.26689209C>T	NCBI36
NG_009018.1:g.248089C>T , LRG_214:g.248089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6727C>T	ENSP00000512431.1:p.Leu2243Phe
ENST00000684826.1:c.1309C>T	ENSP00000509994.1:p.Leu437Phe
ENST00000684998.1:n.2003C>T
ENST00000687027.1:c.901C>T	ENSP00000508715.1:p.Leu301Phe
ENST00000687863.1:n.3390C>T
ENST00000691014.1:c.6775C>T	ENSP00000510595.1:p.Leu2259Phe
ENST00000693617.1:c.1309C>T	ENSP00000510031.1:p.Leu437Phe
ENST00000358273.9:c.6745C>T MANE Select	ENSP00000351015.4:p.Leu2249Phe
ENST00000356175.7:c.6682C>T	ENSP00000348498.3:p.Leu2228Phe
ENST00000358273.8:c.6745C>T	ENSP00000351015.4:p.Leu2249Phe
ENST00000456735.6:c.5680C>T	ENSP00000389907.2:p.Leu1894Phe
ENST00000471572.6:c.128C>T
ENST00000579081.5:c.6881C>T	ENSP00000462408.1:n.6881C>T
ENST00000581790.5:c.64+185C>T
ENST00000584328.1:n.159C>T
NM_000267.3:c.6682C>T , LRG_214t1:c.6682C>T	NP_000258.1:p.Leu2228Phe
NM_001042492.2:c.6745C>T , LRG_214t2:c.6745C>T	NP_001035957.1:p.Leu2249Phe
XM_005257983.1:c.6745C>T	XP_005258040.1:p.Leu2249Phe
XM_005257984.1:c.6682C>T	XP_005258041.1:p.Leu2228Phe
XM_006721922.1:c.6775C>T	XP_006721985.1:p.Leu2259Phe
XM_006721923.2:c.6736C>T	XP_006721986.1:p.Leu2246Phe
XM_006721924.1:c.6775C>T	XP_006721987.1:p.Leu2259Phe
XM_006721925.1:c.6712C>T	XP_006721988.1:p.Leu2238Phe
XM_006721926.2:c.6775C>T	XP_006721989.1:p.Leu2259Phe
XM_006721927.1:c.6775C>T	XP_006721990.1:p.Leu2259Phe
XM_011524852.1:c.6772C>T	XP_011523154.1:p.Leu2258Phe
XM_011524853.1:c.6736C>T	XP_011523155.1:p.Leu2246Phe
XM_011524854.1:c.6736C>T	XP_011523156.1:p.Leu2246Phe
XM_011524855.1:c.6736C>T	XP_011523157.1:p.Leu2246Phe
XM_011524856.1:c.6736C>T	XP_011523158.1:p.Leu2246Phe
XM_011524857.1:c.6775C>T	XP_011523159.1:p.Leu2259Phe
NM_001042492.3:c.6745C>T MANE Select	NP_001035957.1:p.Leu2249Phe