Canonical Allele Identifier: CA399001346
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2629735
ClinVar RCV Id: RCV004550579

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31265318T>A , CM000679.2:g.31265318T>A GRCh38
NC_000017.10:g.29592336T>A , CM000679.1:g.29592336T>A GRCh37
NC_000017.9:g.26616462T>A NCBI36
NG_009018.1:g.175342T>A , LRG_214:g.175342T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.616T>A ENSP00000492721.2:n.616T>A
ENST00000696138.1:c.4796T>A ENSP00000512431.1:p.Ile1599Asn
ENST00000696140.1:n.920T>A
ENST00000696141.1:c.805T>A
ENST00000687863.1:n.1459T>A
ENST00000691014.1:c.4844T>A ENSP00000510595.1:p.Ile1615Asn
ENST00000358273.9:c.4814T>A MANE Select ENSP00000351015.4:p.Ile1605Asn
ENST00000356175.7:c.4751T>A ENSP00000348498.3:p.Ile1584Asn
ENST00000358273.8:c.4814T>A ENSP00000351015.4:p.Ile1605Asn
ENST00000456735.6:c.3749T>A ENSP00000389907.2:p.Ile1250Asn
ENST00000493220.5:n.3287T>A
ENST00000579081.5:c.4853T>A ENSP00000462408.1:p.Ile1618Asn
NM_000267.3:c.4751T>A , LRG_214t1:c.4751T>A NP_000258.1:p.Ile1584Asn
NM_001042492.2:c.4814T>A , LRG_214t2:c.4814T>A NP_001035957.1:p.Ile1605Asn
XM_005257983.1:c.4814T>A XP_005258040.1:p.Ile1605Asn
XM_005257984.1:c.4751T>A XP_005258041.1:p.Ile1584Asn
XM_006721922.1:c.4844T>A XP_006721985.1:p.Ile1615Asn
XM_006721923.2:c.4805T>A XP_006721986.1:p.Ile1602Asn
XM_006721924.1:c.4844T>A XP_006721987.1:p.Ile1615Asn
XM_006721925.1:c.4781T>A XP_006721988.1:p.Ile1594Asn
XM_006721926.2:c.4844T>A XP_006721989.1:p.Ile1615Asn
XM_006721927.1:c.4844T>A XP_006721990.1:p.Ile1615Asn
XM_006721928.2:c.4844T>A XP_006721991.1:p.Ile1615Asn
XM_011524852.1:c.4841T>A XP_011523154.1:p.Ile1614Asn
XM_011524853.1:c.4805T>A XP_011523155.1:p.Ile1602Asn
XM_011524854.1:c.4805T>A XP_011523156.1:p.Ile1602Asn
XM_011524855.1:c.4805T>A XP_011523157.1:p.Ile1602Asn
XM_011524856.1:c.4805T>A XP_011523158.1:p.Ile1602Asn
XM_011524857.1:c.4844T>A XP_011523159.1:p.Ile1615Asn
NM_001042492.3:c.4814T>A MANE Select NP_001035957.1:p.Ile1605Asn