Canonical Allele Identifier: CA399006882
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151537479

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31325823C>G , CM000679.2:g.31325823C>G GRCh38
NC_000017.10:g.29652841C>G , CM000679.1:g.29652841C>G GRCh37
NC_000017.9:g.26676967C>G NCBI36
NG_009018.1:g.235847C>G , LRG_214:g.235847C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.1027C>G ENSP00000492721.2:n.1027C>G
ENST00000696138.1:c.4821C>G ENSP00000512431.1:p.Phe1607Leu
ENST00000684826.1:c.-598C>G ENSP00000509994.1:n.-598C>G
ENST00000687027.1:c.-665C>G ENSP00000508715.1:n.-665C>G
ENST00000687863.1:n.1484C>G
ENST00000691014.1:c.4869C>G ENSP00000510595.1:p.Phe1623Leu
ENST00000693617.1:c.-598C>G ENSP00000510031.1:n.-598C>G
ENST00000358273.9:c.4839C>G MANE Select ENSP00000351015.4:p.Phe1613Leu
ENST00000356175.7:c.4776C>G ENSP00000348498.3:p.Phe1592Leu
ENST00000358273.8:c.4839C>G ENSP00000351015.4:p.Phe1613Leu
ENST00000456735.6:c.3774C>G ENSP00000389907.2:p.Phe1258Leu
ENST00000493220.5:n.3312C>G
ENST00000579081.5:c.4975C>G ENSP00000462408.1:n.4975C>G
ENST00000581113.6:n.156C>G
NM_000267.3:c.4776C>G , LRG_214t1:c.4776C>G NP_000258.1:p.Phe1592Leu
NM_001042492.2:c.4839C>G , LRG_214t2:c.4839C>G NP_001035957.1:p.Phe1613Leu
XM_005257983.1:c.4839C>G XP_005258040.1:p.Phe1613Leu
XM_005257984.1:c.4776C>G XP_005258041.1:p.Phe1592Leu
XM_006721922.1:c.4869C>G XP_006721985.1:p.Phe1623Leu
XM_006721923.2:c.4830C>G XP_006721986.1:p.Phe1610Leu
XM_006721924.1:c.4869C>G XP_006721987.1:p.Phe1623Leu
XM_006721925.1:c.4806C>G XP_006721988.1:p.Phe1602Leu
XM_006721926.2:c.4869C>G XP_006721989.1:p.Phe1623Leu
XM_006721927.1:c.4869C>G XP_006721990.1:p.Phe1623Leu
XM_011524852.1:c.4866C>G XP_011523154.1:p.Phe1622Leu
XM_011524853.1:c.4830C>G XP_011523155.1:p.Phe1610Leu
XM_011524854.1:c.4830C>G XP_011523156.1:p.Phe1610Leu
XM_011524855.1:c.4830C>G XP_011523157.1:p.Phe1610Leu
XM_011524856.1:c.4830C>G XP_011523158.1:p.Phe1610Leu
XM_011524857.1:c.4869C>G XP_011523159.1:p.Phe1623Leu
NM_001042492.3:c.4839C>G MANE Select NP_001035957.1:p.Phe1613Leu