Canonical Allele Identifier: CA398997588
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428946
dbSNP Id: rs1131691072

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31258365C>T , CM000679.2:g.31258365C>T GRCh38
NC_000017.10:g.29585383C>T , CM000679.1:g.29585383C>T GRCh37
NC_000017.9:g.26609509C>T NCBI36
NG_009018.1:g.168389C>T , LRG_214:g.168389C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.4177C>T ENSP00000512431.1:p.Gln1393Ter
ENST00000696140.1:n.301C>T
ENST00000696141.1:c.186C>T
ENST00000687863.1:n.840C>T
ENST00000691014.1:c.4225C>T ENSP00000510595.1:p.Gln1409Ter
ENST00000691649.1:n.167C>T
ENST00000358273.9:c.4195C>T MANE Select ENSP00000351015.4:p.Gln1399Ter
ENST00000356175.7:c.4132C>T ENSP00000348498.3:p.Gln1378Ter
ENST00000358273.8:c.4195C>T ENSP00000351015.4:p.Gln1399Ter
ENST00000456735.6:c.3130C>T ENSP00000389907.2:p.Gln1044Ter
ENST00000466819.5:c.711C>T
ENST00000479614.1:c.648C>T
ENST00000493220.5:n.2668C>T
ENST00000579081.5:c.4234C>T ENSP00000462408.1:p.Gln1412Ter
NM_000267.3:c.4132C>T , LRG_214t1:c.4132C>T NP_000258.1:p.Gln1378Ter
NM_001042492.2:c.4195C>T , LRG_214t2:c.4195C>T NP_001035957.1:p.Gln1399Ter
XM_005257983.1:c.4195C>T XP_005258040.1:p.Gln1399Ter
XM_005257984.1:c.4132C>T XP_005258041.1:p.Gln1378Ter
XM_006721922.1:c.4225C>T XP_006721985.1:p.Gln1409Ter
XM_006721923.2:c.4186C>T XP_006721986.1:p.Gln1396Ter
XM_006721924.1:c.4225C>T XP_006721987.1:p.Gln1409Ter
XM_006721925.1:c.4162C>T XP_006721988.1:p.Gln1388Ter
XM_006721926.2:c.4225C>T XP_006721989.1:p.Gln1409Ter
XM_006721927.1:c.4225C>T XP_006721990.1:p.Gln1409Ter
XM_006721928.2:c.4225C>T XP_006721991.1:p.Gln1409Ter
XM_011524852.1:c.4222C>T XP_011523154.1:p.Gln1408Ter
XM_011524853.1:c.4186C>T XP_011523155.1:p.Gln1396Ter
XM_011524854.1:c.4186C>T XP_011523156.1:p.Gln1396Ter
XM_011524855.1:c.4186C>T XP_011523157.1:p.Gln1396Ter
XM_011524856.1:c.4186C>T XP_011523158.1:p.Gln1396Ter
XM_011524857.1:c.4225C>T XP_011523159.1:p.Gln1409Ter
NM_001042492.3:c.4195C>T MANE Select NP_001035957.1:p.Gln1399Ter