Canonical Allele Identifier: CA399013973

Gene: NF1

Linked Data

• ClinVar Variation Id: 836704
• ClinVar RCV Id: RCV001037892
• dbSNP Id: rs1060500356
• COSMIC: COSM4770378 ; COSM4770379 ; COSM4770380
• MyVariant Identifiers: chr17:g.29665042G>T (hg19) ; chr17:g.31338024G>T (hg38)
• PubMed: PMID:10712197 ; PMID:18546366

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338024G>T , CM000679.2:g.31338024G>T	GRCh38
NC_000017.10:g.29665042G>T , CM000679.1:g.29665042G>T	GRCh37
NC_000017.9:g.26689168G>T	NCBI36
NG_009018.1:g.248048G>T , LRG_214:g.248048G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6687-1G>T	ENSP00000512431.1:n.6687-1G>T
ENST00000684826.1:c.1269-1G>T	ENSP00000509994.1:n.1269-1G>T
ENST00000684998.1:n.1962G>T
ENST00000687027.1:c.861-1G>T	ENSP00000508715.1:n.861-1G>T
ENST00000687863.1:n.3350-1G>T
ENST00000691014.1:c.6735-1G>T	ENSP00000510595.1:n.6735-1G>T
ENST00000693617.1:c.1269-1G>T	ENSP00000510031.1:n.1269-1G>T
ENST00000358273.9:c.6705-1G>T MANE Select	ENSP00000351015.4:n.6705-1G>T
ENST00000356175.7:c.6642-1G>T	ENSP00000348498.3:n.6642-1G>T
ENST00000358273.8:c.6705-1G>T	ENSP00000351015.4:n.6705-1G>T
ENST00000456735.6:c.5640-1G>T	ENSP00000389907.2:n.5640-1G>T
ENST00000471572.6:c.87G>T
ENST00000579081.5:c.6841-1G>T	ENSP00000462408.1:n.6841-1G>T
ENST00000581790.5:c.64+144G>T
ENST00000584328.1:n.119-1G>T
NM_000267.3:c.6642-1G>T , LRG_214t1:c.6642-1G>T	NP_000258.1:n.6642-1G>T
NM_001042492.2:c.6705-1G>T , LRG_214t2:c.6705-1G>T	NP_001035957.1:n.6705-1G>T
XM_005257983.1:c.6705-1G>T	XP_005258040.1:n.6705-1G>T
XM_005257984.1:c.6642-1G>T	XP_005258041.1:n.6642-1G>T
XM_006721922.1:c.6735-1G>T	XP_006721985.1:n.6735-1G>T
XM_006721923.2:c.6696-1G>T	XP_006721986.1:n.6696-1G>T
XM_006721924.1:c.6735-1G>T	XP_006721987.1:n.6735-1G>T
XM_006721925.1:c.6672-1G>T	XP_006721988.1:n.6672-1G>T
XM_006721926.2:c.6735-1G>T	XP_006721989.1:n.6735-1G>T
XM_006721927.1:c.6735-1G>T	XP_006721990.1:n.6735-1G>T
XM_011524852.1:c.6732-1G>T	XP_011523154.1:n.6732-1G>T
XM_011524853.1:c.6696-1G>T	XP_011523155.1:n.6696-1G>T
XM_011524854.1:c.6696-1G>T	XP_011523156.1:n.6696-1G>T
XM_011524855.1:c.6696-1G>T	XP_011523157.1:n.6696-1G>T
XM_011524856.1:c.6696-1G>T	XP_011523158.1:n.6696-1G>T
XM_011524857.1:c.6735-1G>T	XP_011523159.1:n.6735-1G>T
NM_001042492.3:c.6705-1G>T MANE Select	NP_001035957.1:n.6705-1G>T