Canonical Allele Identifier: CA398999936
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2861465
ClinVar RCV Id: RCV003597530
dbSNP Id: rs2151464848

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31260506C>A , CM000679.2:g.31260506C>A GRCh38
NC_000017.10:g.29587524C>A , CM000679.1:g.29587524C>A GRCh37
NC_000017.9:g.26611650C>A NCBI36
NG_009018.1:g.170530C>A , LRG_214:g.170530C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.356C>A ENSP00000492721.2:p.Ser119Tyr
ENST00000696138.1:c.4550C>A ENSP00000512431.1:p.Ser1517Tyr
ENST00000696140.1:n.674C>A
ENST00000696141.1:c.559C>A
ENST00000687863.1:n.1213C>A
ENST00000691014.1:c.4598C>A ENSP00000510595.1:p.Ser1533Tyr
ENST00000691649.1:n.1779C>A
ENST00000358273.9:c.4568C>A MANE Select ENSP00000351015.4:p.Ser1523Tyr
ENST00000356175.7:c.4505C>A ENSP00000348498.3:p.Ser1502Tyr
ENST00000358273.8:c.4568C>A ENSP00000351015.4:p.Ser1523Tyr
ENST00000456735.6:c.3503C>A ENSP00000389907.2:p.Ser1168Tyr
ENST00000466819.5:c.1084C>A
ENST00000479614.1:c.1021C>A
ENST00000493220.5:n.3041C>A
ENST00000579081.5:c.4607C>A ENSP00000462408.1:p.Ser1536Tyr
NM_000267.3:c.4505C>A , LRG_214t1:c.4505C>A NP_000258.1:p.Ser1502Tyr
NM_001042492.2:c.4568C>A , LRG_214t2:c.4568C>A NP_001035957.1:p.Ser1523Tyr
XM_005257983.1:c.4568C>A XP_005258040.1:p.Ser1523Tyr
XM_005257984.1:c.4505C>A XP_005258041.1:p.Ser1502Tyr
XM_006721922.1:c.4598C>A XP_006721985.1:p.Ser1533Tyr
XM_006721923.2:c.4559C>A XP_006721986.1:p.Ser1520Tyr
XM_006721924.1:c.4598C>A XP_006721987.1:p.Ser1533Tyr
XM_006721925.1:c.4535C>A XP_006721988.1:p.Ser1512Tyr
XM_006721926.2:c.4598C>A XP_006721989.1:p.Ser1533Tyr
XM_006721927.1:c.4598C>A XP_006721990.1:p.Ser1533Tyr
XM_006721928.2:c.4598C>A XP_006721991.1:p.Ser1533Tyr
XM_011524852.1:c.4595C>A XP_011523154.1:p.Ser1532Tyr
XM_011524853.1:c.4559C>A XP_011523155.1:p.Ser1520Tyr
XM_011524854.1:c.4559C>A XP_011523156.1:p.Ser1520Tyr
XM_011524855.1:c.4559C>A XP_011523157.1:p.Ser1520Tyr
XM_011524856.1:c.4559C>A XP_011523158.1:p.Ser1520Tyr
XM_011524857.1:c.4598C>A XP_011523159.1:p.Ser1533Tyr
NM_001042492.3:c.4568C>A MANE Select NP_001035957.1:p.Ser1523Tyr