Canonical Allele Identifier: CA398997830

Gene: NF1

Linked Data

• ClinVar Variation Id: 2092452
• ClinVar RCV Id: RCV003016097 ; RCV004550344
• MyVariant Identifiers: chr17:g.29585420T>G (hg19) ; chr17:g.31258402T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258402T>G , CM000679.2:g.31258402T>G	GRCh38
NC_000017.10:g.29585420T>G , CM000679.1:g.29585420T>G	GRCh37
NC_000017.9:g.26609546T>G	NCBI36
NG_009018.1:g.168426T>G , LRG_214:g.168426T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.20T>G	ENSP00000492721.2:p.Leu7Arg
ENST00000696138.1:c.4214T>G	ENSP00000512431.1:p.Leu1405Arg
ENST00000696140.1:n.338T>G
ENST00000696141.1:c.223T>G
ENST00000687863.1:n.877T>G
ENST00000691014.1:c.4262T>G	ENSP00000510595.1:p.Leu1421Arg
ENST00000691649.1:n.204T>G
ENST00000358273.9:c.4232T>G MANE Select	ENSP00000351015.4:p.Leu1411Arg
ENST00000356175.7:c.4169T>G	ENSP00000348498.3:p.Leu1390Arg
ENST00000358273.8:c.4232T>G	ENSP00000351015.4:p.Leu1411Arg
ENST00000456735.6:c.3167T>G	ENSP00000389907.2:p.Leu1056Arg
ENST00000466819.5:c.748T>G
ENST00000479614.1:c.685T>G
ENST00000493220.5:n.2705T>G
ENST00000579081.5:c.4271T>G	ENSP00000462408.1:p.Leu1424Arg
NM_000267.3:c.4169T>G , LRG_214t1:c.4169T>G	NP_000258.1:p.Leu1390Arg
NM_001042492.2:c.4232T>G , LRG_214t2:c.4232T>G	NP_001035957.1:p.Leu1411Arg
XM_005257983.1:c.4232T>G	XP_005258040.1:p.Leu1411Arg
XM_005257984.1:c.4169T>G	XP_005258041.1:p.Leu1390Arg
XM_006721922.1:c.4262T>G	XP_006721985.1:p.Leu1421Arg
XM_006721923.2:c.4223T>G	XP_006721986.1:p.Leu1408Arg
XM_006721924.1:c.4262T>G	XP_006721987.1:p.Leu1421Arg
XM_006721925.1:c.4199T>G	XP_006721988.1:p.Leu1400Arg
XM_006721926.2:c.4262T>G	XP_006721989.1:p.Leu1421Arg
XM_006721927.1:c.4262T>G	XP_006721990.1:p.Leu1421Arg
XM_006721928.2:c.4262T>G	XP_006721991.1:p.Leu1421Arg
XM_011524852.1:c.4259T>G	XP_011523154.1:p.Leu1420Arg
XM_011524853.1:c.4223T>G	XP_011523155.1:p.Leu1408Arg
XM_011524854.1:c.4223T>G	XP_011523156.1:p.Leu1408Arg
XM_011524855.1:c.4223T>G	XP_011523157.1:p.Leu1408Arg
XM_011524856.1:c.4223T>G	XP_011523158.1:p.Leu1408Arg
XM_011524857.1:c.4262T>G	XP_011523159.1:p.Leu1421Arg
NM_001042492.3:c.4232T>G MANE Select	NP_001035957.1:p.Leu1411Arg