Canonical Allele Identifier: CA398990524
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 824040
ClinVar RCV Id: RCV002319272
dbSNP Id: rs1597720167

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31233167T>C , CM000679.2:g.31233167T>C GRCh38
NC_000017.10:g.29560185T>C , CM000679.1:g.29560185T>C GRCh37
NC_000017.9:g.26584311T>C NCBI36
NG_009018.1:g.143191T>C , LRG_214:g.143191T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.3707T>C ENSP00000512431.1:p.Leu1236Pro
ENST00000696139.1:c.1007T>C ENSP00000512432.1:p.Leu336Pro
ENST00000691014.1:c.3692T>C ENSP00000510595.1:p.Leu1231Pro
ENST00000693210.1:n.388T>C
ENST00000358273.9:c.3662T>C MANE Select ENSP00000351015.4:p.Leu1221Pro
ENST00000356175.7:c.3662T>C ENSP00000348498.3:p.Leu1221Pro
ENST00000358273.8:c.3662T>C ENSP00000351015.4:p.Leu1221Pro
ENST00000456735.6:c.2660T>C ENSP00000389907.2:p.Leu887Pro
ENST00000466819.5:c.138T>C
ENST00000479614.1:c.138T>C
ENST00000493220.5:n.2198T>C
ENST00000495910.6:c.3437T>C
ENST00000579081.5:c.3764T>C ENSP00000462408.1:p.Leu1255Pro
NM_000267.3:c.3662T>C , LRG_214t1:c.3662T>C NP_000258.1:p.Leu1221Pro
NM_001042492.2:c.3662T>C , LRG_214t2:c.3662T>C NP_001035957.1:p.Leu1221Pro
XM_005257983.1:c.3662T>C XP_005258040.1:p.Leu1221Pro
XM_005257984.1:c.3662T>C XP_005258041.1:p.Leu1221Pro
XM_006721922.1:c.3692T>C XP_006721985.1:p.Leu1231Pro
XM_006721923.2:c.3653T>C XP_006721986.1:p.Leu1218Pro
XM_006721924.1:c.3692T>C XP_006721987.1:p.Leu1231Pro
XM_006721925.1:c.3692T>C XP_006721988.1:p.Leu1231Pro
XM_006721926.2:c.3692T>C XP_006721989.1:p.Leu1231Pro
XM_006721927.1:c.3692T>C XP_006721990.1:p.Leu1231Pro
XM_006721928.2:c.3692T>C XP_006721991.1:p.Leu1231Pro
XM_011524852.1:c.3689T>C XP_011523154.1:p.Leu1230Pro
XM_011524853.1:c.3653T>C XP_011523155.1:p.Leu1218Pro
XM_011524854.1:c.3653T>C XP_011523156.1:p.Leu1218Pro
XM_011524855.1:c.3653T>C XP_011523157.1:p.Leu1218Pro
XM_011524856.1:c.3653T>C XP_011523158.1:p.Leu1218Pro
XM_011524857.1:c.3692T>C XP_011523159.1:p.Leu1231Pro
NM_001042492.3:c.3662T>C MANE Select NP_001035957.1:p.Leu1221Pro