Canonical Allele Identifier: CA289396096

Gene: NF1

Linked Data

• ClinVar Variation Id: 457821
• ClinVar RCV Id: RCV000541174 ; RCV002461291 ; RCV003470728
• dbSNP Id: rs1022562410
• MyVariant Identifiers: chr17:g.29670045A>G (hg19) ; chr17:g.31343027A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343027A>G , CM000679.2:g.31343027A>G	GRCh38
NC_000017.10:g.29670045A>G , CM000679.1:g.29670045A>G	GRCh37
NC_000017.9:g.26694171A>G	NCBI36
NG_009018.1:g.253051A>G , LRG_214:g.253051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7063A>G	ENSP00000512431.1:p.Met2355Val
ENST00000684826.1:c.1645A>G	ENSP00000509994.1:p.Met549Val
ENST00000687027.1:c.1237A>G	ENSP00000508715.1:p.Met413Val
ENST00000687863.1:n.3726A>G
ENST00000689464.1:c.20A>G
ENST00000691014.1:c.7111A>G	ENSP00000510595.1:p.Met2371Val
ENST00000693617.1:c.1645A>G	ENSP00000510031.1:p.Met549Val
ENST00000358273.9:c.7081A>G MANE Select	ENSP00000351015.4:p.Met2361Val
ENST00000356175.7:c.7018A>G	ENSP00000348498.3:p.Met2340Val
ENST00000358273.8:c.7081A>G	ENSP00000351015.4:p.Met2361Val
ENST00000456735.6:c.6016A>G	ENSP00000389907.2:p.Met2006Val
ENST00000471572.6:c.464A>G
ENST00000579081.5:c.7217A>G	ENSP00000462408.1:n.7217A>G
ENST00000581790.5:c.224A>G
ENST00000582892.1:n.323A>G
ENST00000584328.1:n.495A>G
NM_000267.3:c.7018A>G , LRG_214t1:c.7018A>G	NP_000258.1:p.Met2340Val
NM_001042492.2:c.7081A>G , LRG_214t2:c.7081A>G	NP_001035957.1:p.Met2361Val
XM_005257983.1:c.7081A>G	XP_005258040.1:p.Met2361Val
XM_005257984.1:c.7018A>G	XP_005258041.1:p.Met2340Val
XM_006721922.1:c.7111A>G	XP_006721985.1:p.Met2371Val
XM_006721923.2:c.7072A>G	XP_006721986.1:p.Met2358Val
XM_006721924.1:c.7111A>G	XP_006721987.1:p.Met2371Val
XM_006721925.1:c.7048A>G	XP_006721988.1:p.Met2350Val
XM_006721926.2:c.7111A>G	XP_006721989.1:p.Met2371Val
XM_006721927.1:c.7111A>G	XP_006721990.1:p.Met2371Val
XM_011524852.1:c.7108A>G	XP_011523154.1:p.Met2370Val
XM_011524853.1:c.7072A>G	XP_011523155.1:p.Met2358Val
XM_011524854.1:c.7072A>G	XP_011523156.1:p.Met2358Val
XM_011524855.1:c.7072A>G	XP_011523157.1:p.Met2358Val
XM_011524856.1:c.7072A>G	XP_011523158.1:p.Met2358Val
XM_011524857.1:c.7111A>G	XP_011523159.1:p.Met2371Val
NM_001042492.3:c.7081A>G MANE Select	NP_001035957.1:p.Met2361Val