Canonical Allele Identifier: CA195752
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 186748
dbSNP Id: rs786203189

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31337495G>A , CM000679.2:g.31337495G>A GRCh38
NC_000017.10:g.29664513G>A , CM000679.1:g.29664513G>A GRCh37
NC_000017.9:g.26688639G>A NCBI36
NG_009018.1:g.247519G>A , LRG_214:g.247519G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6537G>A ENSP00000512431.1:p.Arg2179=
ENST00000684826.1:c.1119G>A ENSP00000509994.1:p.Arg373=
ENST00000684998.1:n.1433G>A
ENST00000687027.1:c.711G>A ENSP00000508715.1:p.Arg237=
ENST00000687863.1:n.3200G>A
ENST00000691014.1:c.6585G>A ENSP00000510595.1:p.Arg2195=
ENST00000693617.1:c.1119G>A ENSP00000510031.1:p.Arg373=
ENST00000358273.9:c.6555G>A MANE Select ENSP00000351015.4:p.Arg2185=
ENST00000356175.7:c.6492G>A ENSP00000348498.3:p.Arg2164=
ENST00000358273.8:c.6555G>A ENSP00000351015.4:p.Arg2185=
ENST00000456735.6:c.5490G>A ENSP00000389907.2:p.Arg1830=
ENST00000579081.5:c.6691G>A ENSP00000462408.1:n.6691G>A
NM_000267.3:c.6492G>A , LRG_214t1:c.6492G>A NP_000258.1:p.Arg2164=
NM_001042492.2:c.6555G>A , LRG_214t2:c.6555G>A NP_001035957.1:p.Arg2185=
XM_005257983.1:c.6555G>A XP_005258040.1:p.Arg2185=
XM_005257984.1:c.6492G>A XP_005258041.1:p.Arg2164=
XM_006721922.1:c.6585G>A XP_006721985.1:p.Arg2195=
XM_006721923.2:c.6546G>A XP_006721986.1:p.Arg2182=
XM_006721924.1:c.6585G>A XP_006721987.1:p.Arg2195=
XM_006721925.1:c.6522G>A XP_006721988.1:p.Arg2174=
XM_006721926.2:c.6585G>A XP_006721989.1:p.Arg2195=
XM_006721927.1:c.6585G>A XP_006721990.1:p.Arg2195=
XM_011524852.1:c.6582G>A XP_011523154.1:p.Arg2194=
XM_011524853.1:c.6546G>A XP_011523155.1:p.Arg2182=
XM_011524854.1:c.6546G>A XP_011523156.1:p.Arg2182=
XM_011524855.1:c.6546G>A XP_011523157.1:p.Arg2182=
XM_011524856.1:c.6546G>A XP_011523158.1:p.Arg2182=
XM_011524857.1:c.6585G>A XP_011523159.1:p.Arg2195=
NM_001042492.3:c.6555G>A MANE Select NP_001035957.1:p.Arg2185=