Canonical Allele Identifier: CA399014161
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 561686
dbSNP Id: rs761213794

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338110A>G , CM000679.2:g.31338110A>G GRCh38
NC_000017.10:g.29665128A>G , CM000679.1:g.29665128A>G GRCh37
NC_000017.9:g.26689254A>G NCBI36
NG_009018.1:g.248134A>G , LRG_214:g.248134A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6772A>G ENSP00000512431.1:p.Ile2258Val
ENST00000684826.1:c.1354A>G ENSP00000509994.1:p.Ile452Val
ENST00000684998.1:n.2048A>G
ENST00000687027.1:c.946A>G ENSP00000508715.1:p.Ile316Val
ENST00000687863.1:n.3435A>G
ENST00000691014.1:c.6820A>G ENSP00000510595.1:p.Ile2274Val
ENST00000693617.1:c.1354A>G ENSP00000510031.1:p.Ile452Val
ENST00000358273.9:c.6790A>G MANE Select ENSP00000351015.4:p.Ile2264Val
ENST00000356175.7:c.6727A>G ENSP00000348498.3:p.Ile2243Val
ENST00000358273.8:c.6790A>G ENSP00000351015.4:p.Ile2264Val
ENST00000456735.6:c.5725A>G ENSP00000389907.2:p.Ile1909Val
ENST00000471572.6:c.173A>G
ENST00000579081.5:c.6926A>G ENSP00000462408.1:n.6926A>G
ENST00000581790.5:c.64+230A>G
ENST00000584328.1:n.204A>G
NM_000267.3:c.6727A>G , LRG_214t1:c.6727A>G NP_000258.1:p.Ile2243Val
NM_001042492.2:c.6790A>G , LRG_214t2:c.6790A>G NP_001035957.1:p.Ile2264Val
XM_005257983.1:c.6790A>G XP_005258040.1:p.Ile2264Val
XM_005257984.1:c.6727A>G XP_005258041.1:p.Ile2243Val
XM_006721922.1:c.6820A>G XP_006721985.1:p.Ile2274Val
XM_006721923.2:c.6781A>G XP_006721986.1:p.Ile2261Val
XM_006721924.1:c.6820A>G XP_006721987.1:p.Ile2274Val
XM_006721925.1:c.6757A>G XP_006721988.1:p.Ile2253Val
XM_006721926.2:c.6820A>G XP_006721989.1:p.Ile2274Val
XM_006721927.1:c.6820A>G XP_006721990.1:p.Ile2274Val
XM_011524852.1:c.6817A>G XP_011523154.1:p.Ile2273Val
XM_011524853.1:c.6781A>G XP_011523155.1:p.Ile2261Val
XM_011524854.1:c.6781A>G XP_011523156.1:p.Ile2261Val
XM_011524855.1:c.6781A>G XP_011523157.1:p.Ile2261Val
XM_011524856.1:c.6781A>G XP_011523158.1:p.Ile2261Val
XM_011524857.1:c.6820A>G XP_011523159.1:p.Ile2274Val
NM_001042492.3:c.6790A>G MANE Select NP_001035957.1:p.Ile2264Val