Canonical Allele Identifier: CA398990754
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151435833

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31233210G>C , CM000679.2:g.31233210G>C GRCh38
NC_000017.10:g.29560228G>C , CM000679.1:g.29560228G>C GRCh37
NC_000017.9:g.26584354G>C NCBI36
NG_009018.1:g.143234G>C , LRG_214:g.143234G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.3750G>C ENSP00000512431.1:p.Gln1250His
ENST00000696139.1:c.1050G>C ENSP00000512432.1:p.Gln350His
ENST00000691014.1:c.3735G>C ENSP00000510595.1:p.Gln1245His
ENST00000693210.1:n.431G>C
ENST00000358273.9:c.3705G>C MANE Select ENSP00000351015.4:p.Gln1235His
ENST00000356175.7:c.3705G>C ENSP00000348498.3:p.Gln1235His
ENST00000358273.8:c.3705G>C ENSP00000351015.4:p.Gln1235His
ENST00000456735.6:c.2703G>C ENSP00000389907.2:p.Gln901His
ENST00000466819.5:c.181G>C
ENST00000479614.1:c.181G>C
ENST00000493220.5:n.2241G>C
ENST00000495910.6:c.3480G>C
ENST00000579081.5:c.3807G>C ENSP00000462408.1:p.Gln1269His
NM_000267.3:c.3705G>C , LRG_214t1:c.3705G>C NP_000258.1:p.Gln1235His
NM_001042492.2:c.3705G>C , LRG_214t2:c.3705G>C NP_001035957.1:p.Gln1235His
XM_005257983.1:c.3705G>C XP_005258040.1:p.Gln1235His
XM_005257984.1:c.3705G>C XP_005258041.1:p.Gln1235His
XM_006721922.1:c.3735G>C XP_006721985.1:p.Gln1245His
XM_006721923.2:c.3696G>C XP_006721986.1:p.Gln1232His
XM_006721924.1:c.3735G>C XP_006721987.1:p.Gln1245His
XM_006721925.1:c.3735G>C XP_006721988.1:p.Gln1245His
XM_006721926.2:c.3735G>C XP_006721989.1:p.Gln1245His
XM_006721927.1:c.3735G>C XP_006721990.1:p.Gln1245His
XM_006721928.2:c.3735G>C XP_006721991.1:p.Gln1245His
XM_011524852.1:c.3732G>C XP_011523154.1:p.Gln1244His
XM_011524853.1:c.3696G>C XP_011523155.1:p.Gln1232His
XM_011524854.1:c.3696G>C XP_011523156.1:p.Gln1232His
XM_011524855.1:c.3696G>C XP_011523157.1:p.Gln1232His
XM_011524856.1:c.3696G>C XP_011523158.1:p.Gln1232His
XM_011524857.1:c.3735G>C XP_011523159.1:p.Gln1245His
NM_001042492.3:c.3705G>C MANE Select NP_001035957.1:p.Gln1235His