Canonical Allele Identifier: CA398990446
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151435683

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31233152G>C , CM000679.2:g.31233152G>C GRCh38
NC_000017.10:g.29560170G>C , CM000679.1:g.29560170G>C GRCh37
NC_000017.9:g.26584296G>C NCBI36
NG_009018.1:g.143176G>C , LRG_214:g.143176G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.3692G>C ENSP00000512431.1:p.Gly1231Ala
ENST00000696139.1:c.992G>C ENSP00000512432.1:p.Gly331Ala
ENST00000691014.1:c.3677G>C ENSP00000510595.1:p.Gly1226Ala
ENST00000693210.1:n.373G>C
ENST00000358273.9:c.3647G>C MANE Select ENSP00000351015.4:p.Gly1216Ala
ENST00000356175.7:c.3647G>C ENSP00000348498.3:p.Gly1216Ala
ENST00000358273.8:c.3647G>C ENSP00000351015.4:p.Gly1216Ala
ENST00000456735.6:c.2645G>C ENSP00000389907.2:p.Gly882Ala
ENST00000466819.5:c.123G>C
ENST00000479614.1:c.123G>C
ENST00000493220.5:n.2183G>C
ENST00000495910.6:c.3422G>C
ENST00000579081.5:c.3749G>C ENSP00000462408.1:p.Gly1250Ala
NM_000267.3:c.3647G>C , LRG_214t1:c.3647G>C NP_000258.1:p.Gly1216Ala
NM_001042492.2:c.3647G>C , LRG_214t2:c.3647G>C NP_001035957.1:p.Gly1216Ala
XM_005257983.1:c.3647G>C XP_005258040.1:p.Gly1216Ala
XM_005257984.1:c.3647G>C XP_005258041.1:p.Gly1216Ala
XM_006721922.1:c.3677G>C XP_006721985.1:p.Gly1226Ala
XM_006721923.2:c.3638G>C XP_006721986.1:p.Gly1213Ala
XM_006721924.1:c.3677G>C XP_006721987.1:p.Gly1226Ala
XM_006721925.1:c.3677G>C XP_006721988.1:p.Gly1226Ala
XM_006721926.2:c.3677G>C XP_006721989.1:p.Gly1226Ala
XM_006721927.1:c.3677G>C XP_006721990.1:p.Gly1226Ala
XM_006721928.2:c.3677G>C XP_006721991.1:p.Gly1226Ala
XM_011524852.1:c.3674G>C XP_011523154.1:p.Gly1225Ala
XM_011524853.1:c.3638G>C XP_011523155.1:p.Gly1213Ala
XM_011524854.1:c.3638G>C XP_011523156.1:p.Gly1213Ala
XM_011524855.1:c.3638G>C XP_011523157.1:p.Gly1213Ala
XM_011524856.1:c.3638G>C XP_011523158.1:p.Gly1213Ala
XM_011524857.1:c.3677G>C XP_011523159.1:p.Gly1226Ala
NM_001042492.3:c.3647G>C MANE Select NP_001035957.1:p.Gly1216Ala