Canonical Allele Identifier: CA399015618

Gene: NF1

Linked Data

• COSMIC: COSM4389496 ; COSM4389497 ; COSM4389498
• MyVariant Identifiers: chr17:g.29670079A>G (hg19) ; chr17:g.31343061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343061A>G , CM000679.2:g.31343061A>G	GRCh38
NC_000017.10:g.29670079A>G , CM000679.1:g.29670079A>G	GRCh37
NC_000017.9:g.26694205A>G	NCBI36
NG_009018.1:g.253085A>G , LRG_214:g.253085A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7097A>G	ENSP00000512431.1:p.Lys2366Arg
ENST00000684826.1:c.1679A>G	ENSP00000509994.1:p.Lys560Arg
ENST00000687027.1:c.1271A>G	ENSP00000508715.1:p.Lys424Arg
ENST00000687863.1:n.3760A>G
ENST00000689464.1:c.54A>G
ENST00000691014.1:c.7145A>G	ENSP00000510595.1:p.Lys2382Arg
ENST00000693617.1:c.1679A>G	ENSP00000510031.1:p.Lys560Arg
ENST00000358273.9:c.7115A>G MANE Select	ENSP00000351015.4:p.Lys2372Arg
ENST00000356175.7:c.7052A>G	ENSP00000348498.3:p.Lys2351Arg
ENST00000358273.8:c.7115A>G	ENSP00000351015.4:p.Lys2372Arg
ENST00000456735.6:c.6050A>G	ENSP00000389907.2:p.Lys2017Arg
ENST00000471572.6:c.498A>G
ENST00000579081.5:c.7251A>G	ENSP00000462408.1:n.7251A>G
ENST00000581790.5:c.258A>G
ENST00000582892.1:n.357A>G
ENST00000584328.1:n.529A>G
NM_000267.3:c.7052A>G , LRG_214t1:c.7052A>G	NP_000258.1:p.Lys2351Arg
NM_001042492.2:c.7115A>G , LRG_214t2:c.7115A>G	NP_001035957.1:p.Lys2372Arg
XM_005257983.1:c.7115A>G	XP_005258040.1:p.Lys2372Arg
XM_005257984.1:c.7052A>G	XP_005258041.1:p.Lys2351Arg
XM_006721922.1:c.7145A>G	XP_006721985.1:p.Lys2382Arg
XM_006721923.2:c.7106A>G	XP_006721986.1:p.Lys2369Arg
XM_006721924.1:c.7145A>G	XP_006721987.1:p.Lys2382Arg
XM_006721925.1:c.7082A>G	XP_006721988.1:p.Lys2361Arg
XM_006721926.2:c.7145A>G	XP_006721989.1:p.Lys2382Arg
XM_006721927.1:c.7145A>G	XP_006721990.1:p.Lys2382Arg
XM_011524852.1:c.7142A>G	XP_011523154.1:p.Lys2381Arg
XM_011524853.1:c.7106A>G	XP_011523155.1:p.Lys2369Arg
XM_011524854.1:c.7106A>G	XP_011523156.1:p.Lys2369Arg
XM_011524855.1:c.7106A>G	XP_011523157.1:p.Lys2369Arg
XM_011524856.1:c.7106A>G	XP_011523158.1:p.Lys2369Arg
XM_011524857.1:c.7145A>G	XP_011523159.1:p.Lys2382Arg
NM_001042492.3:c.7115A>G MANE Select	NP_001035957.1:p.Lys2372Arg