Canonical Allele Identifier: CA399000503
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1000652
ClinVar RCV Id: RCV001296809
dbSNP Id: rs751414513

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261815G>C , CM000679.2:g.31261815G>C GRCh38
NC_000017.10:g.29588833G>C , CM000679.1:g.29588833G>C GRCh37
NC_000017.9:g.26612959G>C NCBI36
NG_009018.1:g.171839G>C , LRG_214:g.171839G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.484G>C ENSP00000492721.2:p.Ala162Pro
ENST00000696138.1:c.4664G>C ENSP00000512431.1:p.Ser1555Thr
ENST00000696140.1:n.788G>C
ENST00000696141.1:c.673G>C
ENST00000687863.1:n.1327G>C
ENST00000691014.1:c.4712G>C ENSP00000510595.1:p.Ser1571Thr
ENST00000358273.9:c.4682G>C MANE Select ENSP00000351015.4:p.Ser1561Thr
ENST00000356175.7:c.4619G>C ENSP00000348498.3:p.Ser1540Thr
ENST00000358273.8:c.4682G>C ENSP00000351015.4:p.Ser1561Thr
ENST00000456735.6:c.3617G>C ENSP00000389907.2:p.Ser1206Thr
ENST00000493220.5:n.3155G>C
ENST00000579081.5:c.4721G>C ENSP00000462408.1:p.Ser1574Thr
NM_000267.3:c.4619G>C , LRG_214t1:c.4619G>C NP_000258.1:p.Ser1540Thr
NM_001042492.2:c.4682G>C , LRG_214t2:c.4682G>C NP_001035957.1:p.Ser1561Thr
XM_005257983.1:c.4682G>C XP_005258040.1:p.Ser1561Thr
XM_005257984.1:c.4619G>C XP_005258041.1:p.Ser1540Thr
XM_006721922.1:c.4712G>C XP_006721985.1:p.Ser1571Thr
XM_006721923.2:c.4673G>C XP_006721986.1:p.Ser1558Thr
XM_006721924.1:c.4712G>C XP_006721987.1:p.Ser1571Thr
XM_006721925.1:c.4649G>C XP_006721988.1:p.Ser1550Thr
XM_006721926.2:c.4712G>C XP_006721989.1:p.Ser1571Thr
XM_006721927.1:c.4712G>C XP_006721990.1:p.Ser1571Thr
XM_006721928.2:c.4712G>C XP_006721991.1:p.Ser1571Thr
XM_011524852.1:c.4709G>C XP_011523154.1:p.Ser1570Thr
XM_011524853.1:c.4673G>C XP_011523155.1:p.Ser1558Thr
XM_011524854.1:c.4673G>C XP_011523156.1:p.Ser1558Thr
XM_011524855.1:c.4673G>C XP_011523157.1:p.Ser1558Thr
XM_011524856.1:c.4673G>C XP_011523158.1:p.Ser1558Thr
XM_011524857.1:c.4712G>C XP_011523159.1:p.Ser1571Thr
NM_001042492.3:c.4682G>C MANE Select NP_001035957.1:p.Ser1561Thr