Canonical Allele Identifier: CA399015751
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs1245285900
COSMIC: COSM94822

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31343117G>T , CM000679.2:g.31343117G>T GRCh38
NC_000017.10:g.29670135G>T , CM000679.1:g.29670135G>T GRCh37
NC_000017.9:g.26694261G>T NCBI36
NG_009018.1:g.253141G>T , LRG_214:g.253141G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7153G>T ENSP00000512431.1:p.Val2385Phe
ENST00000684826.1:c.1735G>T ENSP00000509994.1:p.Val579Phe
ENST00000687027.1:c.1327G>T ENSP00000508715.1:p.Val443Phe
ENST00000687863.1:n.3816G>T
ENST00000689464.1:c.110G>T
ENST00000691014.1:c.7201G>T ENSP00000510595.1:p.Val2401Phe
ENST00000693617.1:c.1735G>T ENSP00000510031.1:p.Val579Phe
ENST00000358273.9:c.7171G>T MANE Select ENSP00000351015.4:p.Val2391Phe
ENST00000356175.7:c.7108G>T ENSP00000348498.3:p.Val2370Phe
ENST00000358273.8:c.7171G>T ENSP00000351015.4:p.Val2391Phe
ENST00000456735.6:c.6106G>T ENSP00000389907.2:p.Val2036Phe
ENST00000471572.6:c.554G>T
ENST00000579081.5:c.7307G>T ENSP00000462408.1:n.7307G>T
ENST00000581790.5:c.314G>T
ENST00000582892.1:n.413G>T
NM_000267.3:c.7108G>T , LRG_214t1:c.7108G>T NP_000258.1:p.Val2370Phe
NM_001042492.2:c.7171G>T , LRG_214t2:c.7171G>T NP_001035957.1:p.Val2391Phe
XM_005257983.1:c.7171G>T XP_005258040.1:p.Val2391Phe
XM_005257984.1:c.7108G>T XP_005258041.1:p.Val2370Phe
XM_006721922.1:c.7201G>T XP_006721985.1:p.Val2401Phe
XM_006721923.2:c.7162G>T XP_006721986.1:p.Val2388Phe
XM_006721924.1:c.7201G>T XP_006721987.1:p.Val2401Phe
XM_006721925.1:c.7138G>T XP_006721988.1:p.Val2380Phe
XM_006721926.2:c.7201G>T XP_006721989.1:p.Val2401Phe
XM_006721927.1:c.7201G>T XP_006721990.1:p.Val2401Phe
XM_011524852.1:c.7198G>T XP_011523154.1:p.Val2400Phe
XM_011524853.1:c.7162G>T XP_011523155.1:p.Val2388Phe
XM_011524854.1:c.7162G>T XP_011523156.1:p.Val2388Phe
XM_011524855.1:c.7162G>T XP_011523157.1:p.Val2388Phe
XM_011524856.1:c.7162G>T XP_011523158.1:p.Val2388Phe
XM_011524857.1:c.7201G>T XP_011523159.1:p.Val2401Phe
NM_001042492.3:c.7171G>T MANE Select NP_001035957.1:p.Val2391Phe