Canonical Allele Identifier: CA399000121

Gene: NF1

Linked Data

• ClinVar Variation Id: 547646
• ClinVar RCV Id: RCV000660059
• dbSNP Id: rs1555619001
• MyVariant Identifiers: chr17:g.29588737A>G (hg19) ; chr17:g.31261719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261719A>G , CM000679.2:g.31261719A>G	GRCh38
NC_000017.10:g.29588737A>G , CM000679.1:g.29588737A>G	GRCh37
NC_000017.9:g.26612863A>G	NCBI36
NG_009018.1:g.171743A>G , LRG_214:g.171743A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.388A>G	ENSP00000492721.2:p.Lys130Glu
ENST00000696138.1:c.4568A>G	ENSP00000512431.1:p.Lys1523Arg
ENST00000696140.1:n.692A>G
ENST00000696141.1:c.577A>G
ENST00000687863.1:n.1231A>G
ENST00000691014.1:c.4616A>G	ENSP00000510595.1:p.Lys1539Arg
ENST00000358273.9:c.4586A>G MANE Select	ENSP00000351015.4:p.Lys1529Arg
ENST00000356175.7:c.4523A>G	ENSP00000348498.3:p.Lys1508Arg
ENST00000358273.8:c.4586A>G	ENSP00000351015.4:p.Lys1529Arg
ENST00000456735.6:c.3521A>G	ENSP00000389907.2:p.Lys1174Arg
ENST00000466819.5:c.1102A>G
ENST00000479614.1:c.1039A>G
ENST00000493220.5:n.3059A>G
ENST00000579081.5:c.4625A>G	ENSP00000462408.1:p.Lys1542Arg
NM_000267.3:c.4523A>G , LRG_214t1:c.4523A>G	NP_000258.1:p.Lys1508Arg
NM_001042492.2:c.4586A>G , LRG_214t2:c.4586A>G	NP_001035957.1:p.Lys1529Arg
XM_005257983.1:c.4586A>G	XP_005258040.1:p.Lys1529Arg
XM_005257984.1:c.4523A>G	XP_005258041.1:p.Lys1508Arg
XM_006721922.1:c.4616A>G	XP_006721985.1:p.Lys1539Arg
XM_006721923.2:c.4577A>G	XP_006721986.1:p.Lys1526Arg
XM_006721924.1:c.4616A>G	XP_006721987.1:p.Lys1539Arg
XM_006721925.1:c.4553A>G	XP_006721988.1:p.Lys1518Arg
XM_006721926.2:c.4616A>G	XP_006721989.1:p.Lys1539Arg
XM_006721927.1:c.4616A>G	XP_006721990.1:p.Lys1539Arg
XM_006721928.2:c.4616A>G	XP_006721991.1:p.Lys1539Arg
XM_011524852.1:c.4613A>G	XP_011523154.1:p.Lys1538Arg
XM_011524853.1:c.4577A>G	XP_011523155.1:p.Lys1526Arg
XM_011524854.1:c.4577A>G	XP_011523156.1:p.Lys1526Arg
XM_011524855.1:c.4577A>G	XP_011523157.1:p.Lys1526Arg
XM_011524856.1:c.4577A>G	XP_011523158.1:p.Lys1526Arg
XM_011524857.1:c.4616A>G	XP_011523159.1:p.Lys1539Arg
NM_001042492.3:c.4586A>G MANE Select	NP_001035957.1:p.Lys1529Arg