Canonical Allele Identifier: CA399014114
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151558229

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338087G>A , CM000679.2:g.31338087G>A GRCh38
NC_000017.10:g.29665105G>A , CM000679.1:g.29665105G>A GRCh37
NC_000017.9:g.26689231G>A NCBI36
NG_009018.1:g.248111G>A , LRG_214:g.248111G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6749G>A ENSP00000512431.1:p.Ser2250Asn
ENST00000684826.1:c.1331G>A ENSP00000509994.1:p.Ser444Asn
ENST00000684998.1:n.2025G>A
ENST00000687027.1:c.923G>A ENSP00000508715.1:p.Ser308Asn
ENST00000687863.1:n.3412G>A
ENST00000691014.1:c.6797G>A ENSP00000510595.1:p.Ser2266Asn
ENST00000693617.1:c.1331G>A ENSP00000510031.1:p.Ser444Asn
ENST00000358273.9:c.6767G>A MANE Select ENSP00000351015.4:p.Ser2256Asn
ENST00000356175.7:c.6704G>A ENSP00000348498.3:p.Ser2235Asn
ENST00000358273.8:c.6767G>A ENSP00000351015.4:p.Ser2256Asn
ENST00000456735.6:c.5702G>A ENSP00000389907.2:p.Ser1901Asn
ENST00000471572.6:c.150G>A
ENST00000579081.5:c.6903G>A ENSP00000462408.1:n.6903G>A
ENST00000581790.5:c.64+207G>A
ENST00000584328.1:n.181G>A
NM_000267.3:c.6704G>A , LRG_214t1:c.6704G>A NP_000258.1:p.Ser2235Asn
NM_001042492.2:c.6767G>A , LRG_214t2:c.6767G>A NP_001035957.1:p.Ser2256Asn
XM_005257983.1:c.6767G>A XP_005258040.1:p.Ser2256Asn
XM_005257984.1:c.6704G>A XP_005258041.1:p.Ser2235Asn
XM_006721922.1:c.6797G>A XP_006721985.1:p.Ser2266Asn
XM_006721923.2:c.6758G>A XP_006721986.1:p.Ser2253Asn
XM_006721924.1:c.6797G>A XP_006721987.1:p.Ser2266Asn
XM_006721925.1:c.6734G>A XP_006721988.1:p.Ser2245Asn
XM_006721926.2:c.6797G>A XP_006721989.1:p.Ser2266Asn
XM_006721927.1:c.6797G>A XP_006721990.1:p.Ser2266Asn
XM_011524852.1:c.6794G>A XP_011523154.1:p.Ser2265Asn
XM_011524853.1:c.6758G>A XP_011523155.1:p.Ser2253Asn
XM_011524854.1:c.6758G>A XP_011523156.1:p.Ser2253Asn
XM_011524855.1:c.6758G>A XP_011523157.1:p.Ser2253Asn
XM_011524856.1:c.6758G>A XP_011523158.1:p.Ser2253Asn
XM_011524857.1:c.6797G>A XP_011523159.1:p.Ser2266Asn
NM_001042492.3:c.6767G>A MANE Select NP_001035957.1:p.Ser2256Asn