Canonical Allele Identifier: CA251459

Gene: NF1

Linked Data

• ClinVar Variation Id: 348
• ClinVar RCV Id: RCV001810827 ; RCV002326656
• dbSNP Id: rs137854554
• MyVariant Identifiers: chr17:g.29585424A>T (hg19) ; chr17:g.31258406A>T (hg38)
• PubMed: PMID:9003501

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258406A>T , CM000679.2:g.31258406A>T	GRCh38
NC_000017.10:g.29585424A>T , CM000679.1:g.29585424A>T	GRCh37
NC_000017.9:g.26609550A>T	NCBI36
NG_009018.1:g.168430A>T , LRG_214:g.168430A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.24A>T	ENSP00000492721.2:p.Arg8Ser
ENST00000696138.1:c.4218A>T	ENSP00000512431.1:p.Arg1406Ser
ENST00000696140.1:n.342A>T
ENST00000696141.1:c.227A>T
ENST00000687863.1:n.881A>T
ENST00000691014.1:c.4266A>T	ENSP00000510595.1:p.Arg1422Ser
ENST00000691649.1:n.208A>T
ENST00000358273.9:c.4236A>T MANE Select	ENSP00000351015.4:p.Arg1412Ser
ENST00000356175.7:c.4173A>T	ENSP00000348498.3:p.Arg1391Ser
ENST00000358273.8:c.4236A>T	ENSP00000351015.4:p.Arg1412Ser
ENST00000456735.6:c.3171A>T	ENSP00000389907.2:p.Arg1057Ser
ENST00000466819.5:c.752A>T
ENST00000479614.1:c.689A>T
ENST00000493220.5:n.2709A>T
ENST00000579081.5:c.4275A>T	ENSP00000462408.1:p.Arg1425Ser
NM_000267.3:c.4173A>T , LRG_214t1:c.4173A>T	NP_000258.1:p.Arg1391Ser
NM_001042492.2:c.4236A>T , LRG_214t2:c.4236A>T	NP_001035957.1:p.Arg1412Ser
XM_005257983.1:c.4236A>T	XP_005258040.1:p.Arg1412Ser
XM_005257984.1:c.4173A>T	XP_005258041.1:p.Arg1391Ser
XM_006721922.1:c.4266A>T	XP_006721985.1:p.Arg1422Ser
XM_006721923.2:c.4227A>T	XP_006721986.1:p.Arg1409Ser
XM_006721924.1:c.4266A>T	XP_006721987.1:p.Arg1422Ser
XM_006721925.1:c.4203A>T	XP_006721988.1:p.Arg1401Ser
XM_006721926.2:c.4266A>T	XP_006721989.1:p.Arg1422Ser
XM_006721927.1:c.4266A>T	XP_006721990.1:p.Arg1422Ser
XM_006721928.2:c.4266A>T	XP_006721991.1:p.Arg1422Ser
XM_011524852.1:c.4263A>T	XP_011523154.1:p.Arg1421Ser
XM_011524853.1:c.4227A>T	XP_011523155.1:p.Arg1409Ser
XM_011524854.1:c.4227A>T	XP_011523156.1:p.Arg1409Ser
XM_011524855.1:c.4227A>T	XP_011523157.1:p.Arg1409Ser
XM_011524856.1:c.4227A>T	XP_011523158.1:p.Arg1409Ser
XM_011524857.1:c.4266A>T	XP_011523159.1:p.Arg1422Ser
NM_001042492.3:c.4236A>T MANE Select	NP_001035957.1:p.Arg1412Ser