Canonical Allele Identifier: CA399006921
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151537528

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31325837T>A , CM000679.2:g.31325837T>A GRCh38
NC_000017.10:g.29652855T>A , CM000679.1:g.29652855T>A GRCh37
NC_000017.9:g.26676981T>A NCBI36
NG_009018.1:g.235861T>A , LRG_214:g.235861T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.1041T>A ENSP00000492721.2:n.1041T>A
ENST00000696138.1:c.4835T>A ENSP00000512431.1:p.Ile1612Asn
ENST00000684826.1:c.-584T>A ENSP00000509994.1:n.-584T>A
ENST00000687027.1:c.-651T>A ENSP00000508715.1:n.-651T>A
ENST00000687863.1:n.1498T>A
ENST00000691014.1:c.4883T>A ENSP00000510595.1:p.Ile1628Asn
ENST00000693617.1:c.-584T>A ENSP00000510031.1:n.-584T>A
ENST00000358273.9:c.4853T>A MANE Select ENSP00000351015.4:p.Ile1618Asn
ENST00000356175.7:c.4790T>A ENSP00000348498.3:p.Ile1597Asn
ENST00000358273.8:c.4853T>A ENSP00000351015.4:p.Ile1618Asn
ENST00000456735.6:c.3788T>A ENSP00000389907.2:p.Ile1263Asn
ENST00000493220.5:n.3326T>A
ENST00000579081.5:c.4989T>A ENSP00000462408.1:n.4989T>A
ENST00000581113.6:n.170T>A
NM_000267.3:c.4790T>A , LRG_214t1:c.4790T>A NP_000258.1:p.Ile1597Asn
NM_001042492.2:c.4853T>A , LRG_214t2:c.4853T>A NP_001035957.1:p.Ile1618Asn
XM_005257983.1:c.4853T>A XP_005258040.1:p.Ile1618Asn
XM_005257984.1:c.4790T>A XP_005258041.1:p.Ile1597Asn
XM_006721922.1:c.4883T>A XP_006721985.1:p.Ile1628Asn
XM_006721923.2:c.4844T>A XP_006721986.1:p.Ile1615Asn
XM_006721924.1:c.4883T>A XP_006721987.1:p.Ile1628Asn
XM_006721925.1:c.4820T>A XP_006721988.1:p.Ile1607Asn
XM_006721926.2:c.4883T>A XP_006721989.1:p.Ile1628Asn
XM_006721927.1:c.4883T>A XP_006721990.1:p.Ile1628Asn
XM_011524852.1:c.4880T>A XP_011523154.1:p.Ile1627Asn
XM_011524853.1:c.4844T>A XP_011523155.1:p.Ile1615Asn
XM_011524854.1:c.4844T>A XP_011523156.1:p.Ile1615Asn
XM_011524855.1:c.4844T>A XP_011523157.1:p.Ile1615Asn
XM_011524856.1:c.4844T>A XP_011523158.1:p.Ile1615Asn
XM_011524857.1:c.4883T>A XP_011523159.1:p.Ile1628Asn
NM_001042492.3:c.4853T>A MANE Select NP_001035957.1:p.Ile1618Asn