Canonical Allele Identifier: CA399015786

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29670151A>G (hg19) ; chr17:g.31343133A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343133A>G , CM000679.2:g.31343133A>G	GRCh38
NC_000017.10:g.29670151A>G , CM000679.1:g.29670151A>G	GRCh37
NC_000017.9:g.26694277A>G	NCBI36
NG_009018.1:g.253157A>G , LRG_214:g.253157A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7169A>G	ENSP00000512431.1:p.Lys2390Arg
ENST00000684826.1:c.1751A>G	ENSP00000509994.1:p.Lys584Arg
ENST00000687027.1:c.1343A>G	ENSP00000508715.1:p.Lys448Arg
ENST00000687863.1:n.3832A>G
ENST00000689464.1:c.126A>G
ENST00000691014.1:c.7217A>G	ENSP00000510595.1:p.Lys2406Arg
ENST00000693617.1:c.1751A>G	ENSP00000510031.1:p.Lys584Arg
ENST00000358273.9:c.7187A>G MANE Select	ENSP00000351015.4:p.Lys2396Arg
ENST00000356175.7:c.7124A>G	ENSP00000348498.3:p.Lys2375Arg
ENST00000358273.8:c.7187A>G	ENSP00000351015.4:p.Lys2396Arg
ENST00000456735.6:c.6122A>G	ENSP00000389907.2:p.Lys2041Arg
ENST00000471572.6:c.570A>G
ENST00000579081.5:c.7323A>G	ENSP00000462408.1:n.7323A>G
ENST00000581790.5:c.330A>G
ENST00000582892.1:n.429A>G
NM_000267.3:c.7124A>G , LRG_214t1:c.7124A>G	NP_000258.1:p.Lys2375Arg
NM_001042492.2:c.7187A>G , LRG_214t2:c.7187A>G	NP_001035957.1:p.Lys2396Arg
XM_005257983.1:c.7187A>G	XP_005258040.1:p.Lys2396Arg
XM_005257984.1:c.7124A>G	XP_005258041.1:p.Lys2375Arg
XM_006721922.1:c.7217A>G	XP_006721985.1:p.Lys2406Arg
XM_006721923.2:c.7178A>G	XP_006721986.1:p.Lys2393Arg
XM_006721924.1:c.7217A>G	XP_006721987.1:p.Lys2406Arg
XM_006721925.1:c.7154A>G	XP_006721988.1:p.Lys2385Arg
XM_006721926.2:c.7217A>G	XP_006721989.1:p.Lys2406Arg
XM_006721927.1:c.7217A>G	XP_006721990.1:p.Lys2406Arg
XM_011524852.1:c.7214A>G	XP_011523154.1:p.Lys2405Arg
XM_011524853.1:c.7178A>G	XP_011523155.1:p.Lys2393Arg
XM_011524854.1:c.7178A>G	XP_011523156.1:p.Lys2393Arg
XM_011524855.1:c.7178A>G	XP_011523157.1:p.Lys2393Arg
XM_011524856.1:c.7178A>G	XP_011523158.1:p.Lys2393Arg
XM_011524857.1:c.7217A>G	XP_011523159.1:p.Lys2406Arg
NM_001042492.3:c.7187A>G MANE Select	NP_001035957.1:p.Lys2396Arg