Canonical Allele Identifier: CA399014347
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151559246

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338752C>G , CM000679.2:g.31338752C>G GRCh38
NC_000017.10:g.29665770C>G , CM000679.1:g.29665770C>G GRCh37
NC_000017.9:g.26689896C>G NCBI36
NG_009018.1:g.248776C>G , LRG_214:g.248776C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6850C>G ENSP00000512431.1:p.Leu2284Val
ENST00000684826.1:c.1432C>G ENSP00000509994.1:p.Leu478Val
ENST00000684998.1:n.2690C>G
ENST00000687027.1:c.1024C>G ENSP00000508715.1:p.Leu342Val
ENST00000687863.1:n.3513C>G
ENST00000691014.1:c.6898C>G ENSP00000510595.1:p.Leu2300Val
ENST00000693617.1:c.1432C>G ENSP00000510031.1:p.Leu478Val
ENST00000358273.9:c.6868C>G MANE Select ENSP00000351015.4:p.Leu2290Val
ENST00000356175.7:c.6805C>G ENSP00000348498.3:p.Leu2269Val
ENST00000358273.8:c.6868C>G ENSP00000351015.4:p.Leu2290Val
ENST00000456735.6:c.5803C>G ENSP00000389907.2:p.Leu1935Val
ENST00000471572.6:c.251C>G
ENST00000579081.5:c.7004C>G ENSP00000462408.1:n.7004C>G
ENST00000581790.5:c.64+872C>G
ENST00000584328.1:n.282C>G
NM_000267.3:c.6805C>G , LRG_214t1:c.6805C>G NP_000258.1:p.Leu2269Val
NM_001042492.2:c.6868C>G , LRG_214t2:c.6868C>G NP_001035957.1:p.Leu2290Val
XM_005257983.1:c.6868C>G XP_005258040.1:p.Leu2290Val
XM_005257984.1:c.6805C>G XP_005258041.1:p.Leu2269Val
XM_006721922.1:c.6898C>G XP_006721985.1:p.Leu2300Val
XM_006721923.2:c.6859C>G XP_006721986.1:p.Leu2287Val
XM_006721924.1:c.6898C>G XP_006721987.1:p.Leu2300Val
XM_006721925.1:c.6835C>G XP_006721988.1:p.Leu2279Val
XM_006721926.2:c.6898C>G XP_006721989.1:p.Leu2300Val
XM_006721927.1:c.6898C>G XP_006721990.1:p.Leu2300Val
XM_011524852.1:c.6895C>G XP_011523154.1:p.Leu2299Val
XM_011524853.1:c.6859C>G XP_011523155.1:p.Leu2287Val
XM_011524854.1:c.6859C>G XP_011523156.1:p.Leu2287Val
XM_011524855.1:c.6859C>G XP_011523157.1:p.Leu2287Val
XM_011524856.1:c.6859C>G XP_011523158.1:p.Leu2287Val
XM_011524857.1:c.6898C>G XP_011523159.1:p.Leu2300Val
NM_001042492.3:c.6868C>G MANE Select NP_001035957.1:p.Leu2290Val