Canonical Allele Identifier: CA398989966
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457654
dbSNP Id: rs1555615027
COSMIC: COSM48598

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31233049G>T , CM000679.2:g.31233049G>T GRCh38
NC_000017.10:g.29560067G>T , CM000679.1:g.29560067G>T GRCh37
NC_000017.9:g.26584193G>T NCBI36
NG_009018.1:g.143073G>T , LRG_214:g.143073G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.3589G>T ENSP00000512431.1:p.Val1197Phe
ENST00000696139.1:c.889G>T ENSP00000512432.1:p.Val297Phe
ENST00000691014.1:c.3574G>T ENSP00000510595.1:p.Val1192Phe
ENST00000693210.1:n.270G>T
ENST00000358273.9:c.3544G>T MANE Select ENSP00000351015.4:p.Val1182Phe
ENST00000356175.7:c.3544G>T ENSP00000348498.3:p.Val1182Phe
ENST00000358273.8:c.3544G>T ENSP00000351015.4:p.Val1182Phe
ENST00000456735.6:c.2542G>T ENSP00000389907.2:p.Val848Phe
ENST00000466819.5:c.20G>T
ENST00000479614.1:c.20G>T
ENST00000493220.5:n.2080G>T
ENST00000495910.6:c.3319G>T
ENST00000579081.5:c.3646G>T ENSP00000462408.1:p.Val1216Phe
NM_000267.3:c.3544G>T , LRG_214t1:c.3544G>T NP_000258.1:p.Val1182Phe
NM_001042492.2:c.3544G>T , LRG_214t2:c.3544G>T NP_001035957.1:p.Val1182Phe
XM_005257983.1:c.3544G>T XP_005258040.1:p.Val1182Phe
XM_005257984.1:c.3544G>T XP_005258041.1:p.Val1182Phe
XM_006721922.1:c.3574G>T XP_006721985.1:p.Val1192Phe
XM_006721923.2:c.3535G>T XP_006721986.1:p.Val1179Phe
XM_006721924.1:c.3574G>T XP_006721987.1:p.Val1192Phe
XM_006721925.1:c.3574G>T XP_006721988.1:p.Val1192Phe
XM_006721926.2:c.3574G>T XP_006721989.1:p.Val1192Phe
XM_006721927.1:c.3574G>T XP_006721990.1:p.Val1192Phe
XM_006721928.2:c.3574G>T XP_006721991.1:p.Val1192Phe
XM_011524852.1:c.3571G>T XP_011523154.1:p.Val1191Phe
XM_011524853.1:c.3535G>T XP_011523155.1:p.Val1179Phe
XM_011524854.1:c.3535G>T XP_011523156.1:p.Val1179Phe
XM_011524855.1:c.3535G>T XP_011523157.1:p.Val1179Phe
XM_011524856.1:c.3535G>T XP_011523158.1:p.Val1179Phe
XM_011524857.1:c.3574G>T XP_011523159.1:p.Val1192Phe
NM_001042492.3:c.3544G>T MANE Select NP_001035957.1:p.Val1182Phe