Canonical Allele Identifier: CA10580365
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 233869
dbSNP Id: rs876660696
COSMIC: COSM220095

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31335016G>A , CM000679.2:g.31335016G>A GRCh38
NC_000017.10:g.29662034G>A , CM000679.1:g.29662034G>A GRCh37
NC_000017.9:g.26686160G>A NCBI36
NG_009018.1:g.245040G>A , LRG_214:g.245040G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.2179G>A ENSP00000492721.2:n.2179G>A
ENST00000696138.1:c.5973G>A ENSP00000512431.1:p.Trp1991Ter
ENST00000684826.1:c.555G>A ENSP00000509994.1:p.Trp185Ter
ENST00000687027.1:c.147G>A ENSP00000508715.1:p.Trp49Ter
ENST00000687863.1:n.2636G>A
ENST00000691014.1:c.6021G>A ENSP00000510595.1:p.Trp2007Ter
ENST00000693617.1:c.555G>A ENSP00000510031.1:p.Trp185Ter
ENST00000358273.9:c.5991G>A MANE Select ENSP00000351015.4:p.Trp1997Ter
ENST00000356175.7:c.5928G>A ENSP00000348498.3:p.Trp1976Ter
ENST00000358273.8:c.5991G>A ENSP00000351015.4:p.Trp1997Ter
ENST00000456735.6:c.4926G>A ENSP00000389907.2:p.Trp1642Ter
ENST00000479536.2:c.416G>A
ENST00000579081.5:c.6127G>A ENSP00000462408.1:n.6127G>A
ENST00000581113.6:n.1308G>A
NM_000267.3:c.5928G>A , LRG_214t1:c.5928G>A NP_000258.1:p.Trp1976Ter
NM_001042492.2:c.5991G>A , LRG_214t2:c.5991G>A NP_001035957.1:p.Trp1997Ter
XM_005257983.1:c.5991G>A XP_005258040.1:p.Trp1997Ter
XM_005257984.1:c.5928G>A XP_005258041.1:p.Trp1976Ter
XM_006721922.1:c.6021G>A XP_006721985.1:p.Trp2007Ter
XM_006721923.2:c.5982G>A XP_006721986.1:p.Trp1994Ter
XM_006721924.1:c.6021G>A XP_006721987.1:p.Trp2007Ter
XM_006721925.1:c.5958G>A XP_006721988.1:p.Trp1986Ter
XM_006721926.2:c.6021G>A XP_006721989.1:p.Trp2007Ter
XM_006721927.1:c.6021G>A XP_006721990.1:p.Trp2007Ter
XM_011524852.1:c.6018G>A XP_011523154.1:p.Trp2006Ter
XM_011524853.1:c.5982G>A XP_011523155.1:p.Trp1994Ter
XM_011524854.1:c.5982G>A XP_011523156.1:p.Trp1994Ter
XM_011524855.1:c.5982G>A XP_011523157.1:p.Trp1994Ter
XM_011524856.1:c.5982G>A XP_011523158.1:p.Trp1994Ter
XM_011524857.1:c.6021G>A XP_011523159.1:p.Trp2007Ter
NM_001042492.3:c.5991G>A MANE Select NP_001035957.1:p.Trp1997Ter