Canonical Allele Identifier: CA129599
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 30992
dbSNP Id: rs199474789

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31258401C>T , CM000679.2:g.31258401C>T GRCh38
NC_000017.10:g.29585419C>T , CM000679.1:g.29585419C>T GRCh37
NC_000017.9:g.26609545C>T NCBI36
NG_009018.1:g.168425C>T , LRG_214:g.168425C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.19C>T ENSP00000492721.2:p.Leu7Phe
ENST00000696138.1:c.4213C>T ENSP00000512431.1:p.Leu1405Phe
ENST00000696140.1:n.337C>T
ENST00000696141.1:c.222C>T
ENST00000687863.1:n.876C>T
ENST00000691014.1:c.4261C>T ENSP00000510595.1:p.Leu1421Phe
ENST00000691649.1:n.203C>T
ENST00000358273.9:c.4231C>T MANE Select ENSP00000351015.4:p.Leu1411Phe
ENST00000356175.7:c.4168C>T ENSP00000348498.3:p.Leu1390Phe
ENST00000358273.8:c.4231C>T ENSP00000351015.4:p.Leu1411Phe
ENST00000456735.6:c.3166C>T ENSP00000389907.2:p.Leu1056Phe
ENST00000466819.5:c.747C>T
ENST00000479614.1:c.684C>T
ENST00000493220.5:n.2704C>T
ENST00000579081.5:c.4270C>T ENSP00000462408.1:p.Leu1424Phe
NM_000267.3:c.4168C>T , LRG_214t1:c.4168C>T NP_000258.1:p.Leu1390Phe
NM_001042492.2:c.4231C>T , LRG_214t2:c.4231C>T NP_001035957.1:p.Leu1411Phe
XM_005257983.1:c.4231C>T XP_005258040.1:p.Leu1411Phe
XM_005257984.1:c.4168C>T XP_005258041.1:p.Leu1390Phe
XM_006721922.1:c.4261C>T XP_006721985.1:p.Leu1421Phe
XM_006721923.2:c.4222C>T XP_006721986.1:p.Leu1408Phe
XM_006721924.1:c.4261C>T XP_006721987.1:p.Leu1421Phe
XM_006721925.1:c.4198C>T XP_006721988.1:p.Leu1400Phe
XM_006721926.2:c.4261C>T XP_006721989.1:p.Leu1421Phe
XM_006721927.1:c.4261C>T XP_006721990.1:p.Leu1421Phe
XM_006721928.2:c.4261C>T XP_006721991.1:p.Leu1421Phe
XM_011524852.1:c.4258C>T XP_011523154.1:p.Leu1420Phe
XM_011524853.1:c.4222C>T XP_011523155.1:p.Leu1408Phe
XM_011524854.1:c.4222C>T XP_011523156.1:p.Leu1408Phe
XM_011524855.1:c.4222C>T XP_011523157.1:p.Leu1408Phe
XM_011524856.1:c.4222C>T XP_011523158.1:p.Leu1408Phe
XM_011524857.1:c.4261C>T XP_011523159.1:p.Leu1421Phe
NM_001042492.3:c.4231C>T MANE Select NP_001035957.1:p.Leu1411Phe