Canonical Allele Identifier: CA399001342

Gene: NF1

Linked Data

• ClinVar Variation Id: 848494
• ClinVar RCV Id: RCV001052263
• dbSNP Id: rs2067766742
• MyVariant Identifiers: chr17:g.29592333C>G (hg19) ; chr17:g.31265315C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265315C>G , CM000679.2:g.31265315C>G	GRCh38
NC_000017.10:g.29592333C>G , CM000679.1:g.29592333C>G	GRCh37
NC_000017.9:g.26616459C>G	NCBI36
NG_009018.1:g.175339C>G , LRG_214:g.175339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.613C>G	ENSP00000492721.2:n.613C>G
ENST00000696138.1:c.4793C>G	ENSP00000512431.1:p.Pro1598Arg
ENST00000696140.1:n.917C>G
ENST00000696141.1:c.802C>G
ENST00000687863.1:n.1456C>G
ENST00000691014.1:c.4841C>G	ENSP00000510595.1:p.Pro1614Arg
ENST00000358273.9:c.4811C>G MANE Select	ENSP00000351015.4:p.Pro1604Arg
ENST00000356175.7:c.4748C>G	ENSP00000348498.3:p.Pro1583Arg
ENST00000358273.8:c.4811C>G	ENSP00000351015.4:p.Pro1604Arg
ENST00000456735.6:c.3746C>G	ENSP00000389907.2:p.Pro1249Arg
ENST00000493220.5:n.3284C>G
ENST00000579081.5:c.4850C>G	ENSP00000462408.1:p.Pro1617Arg
NM_000267.3:c.4748C>G , LRG_214t1:c.4748C>G	NP_000258.1:p.Pro1583Arg
NM_001042492.2:c.4811C>G , LRG_214t2:c.4811C>G	NP_001035957.1:p.Pro1604Arg
XM_005257983.1:c.4811C>G	XP_005258040.1:p.Pro1604Arg
XM_005257984.1:c.4748C>G	XP_005258041.1:p.Pro1583Arg
XM_006721922.1:c.4841C>G	XP_006721985.1:p.Pro1614Arg
XM_006721923.2:c.4802C>G	XP_006721986.1:p.Pro1601Arg
XM_006721924.1:c.4841C>G	XP_006721987.1:p.Pro1614Arg
XM_006721925.1:c.4778C>G	XP_006721988.1:p.Pro1593Arg
XM_006721926.2:c.4841C>G	XP_006721989.1:p.Pro1614Arg
XM_006721927.1:c.4841C>G	XP_006721990.1:p.Pro1614Arg
XM_006721928.2:c.4841C>G	XP_006721991.1:p.Pro1614Arg
XM_011524852.1:c.4838C>G	XP_011523154.1:p.Pro1613Arg
XM_011524853.1:c.4802C>G	XP_011523155.1:p.Pro1601Arg
XM_011524854.1:c.4802C>G	XP_011523156.1:p.Pro1601Arg
XM_011524855.1:c.4802C>G	XP_011523157.1:p.Pro1601Arg
XM_011524856.1:c.4802C>G	XP_011523158.1:p.Pro1601Arg
XM_011524857.1:c.4841C>G	XP_011523159.1:p.Pro1614Arg
NM_001042492.3:c.4811C>G MANE Select	NP_001035957.1:p.Pro1604Arg