Canonical Allele Identifier: CA399014336
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338747A>C , CM000679.2:g.31338747A>C GRCh38
NC_000017.10:g.29665765A>C , CM000679.1:g.29665765A>C GRCh37
NC_000017.9:g.26689891A>C NCBI36
NG_009018.1:g.248771A>C , LRG_214:g.248771A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6845A>C ENSP00000512431.1:p.Gln2282Pro
ENST00000684826.1:c.1427A>C ENSP00000509994.1:p.Gln476Pro
ENST00000684998.1:n.2685A>C
ENST00000687027.1:c.1019A>C ENSP00000508715.1:p.Gln340Pro
ENST00000687863.1:n.3508A>C
ENST00000691014.1:c.6893A>C ENSP00000510595.1:p.Gln2298Pro
ENST00000693617.1:c.1427A>C ENSP00000510031.1:p.Gln476Pro
ENST00000358273.9:c.6863A>C MANE Select ENSP00000351015.4:p.Gln2288Pro
ENST00000356175.7:c.6800A>C ENSP00000348498.3:p.Gln2267Pro
ENST00000358273.8:c.6863A>C ENSP00000351015.4:p.Gln2288Pro
ENST00000456735.6:c.5798A>C ENSP00000389907.2:p.Gln1933Pro
ENST00000471572.6:c.246A>C
ENST00000579081.5:c.6999A>C ENSP00000462408.1:n.6999A>C
ENST00000581790.5:c.64+867A>C
ENST00000584328.1:n.277A>C
NM_000267.3:c.6800A>C , LRG_214t1:c.6800A>C NP_000258.1:p.Gln2267Pro
NM_001042492.2:c.6863A>C , LRG_214t2:c.6863A>C NP_001035957.1:p.Gln2288Pro
XM_005257983.1:c.6863A>C XP_005258040.1:p.Gln2288Pro
XM_005257984.1:c.6800A>C XP_005258041.1:p.Gln2267Pro
XM_006721922.1:c.6893A>C XP_006721985.1:p.Gln2298Pro
XM_006721923.2:c.6854A>C XP_006721986.1:p.Gln2285Pro
XM_006721924.1:c.6893A>C XP_006721987.1:p.Gln2298Pro
XM_006721925.1:c.6830A>C XP_006721988.1:p.Gln2277Pro
XM_006721926.2:c.6893A>C XP_006721989.1:p.Gln2298Pro
XM_006721927.1:c.6893A>C XP_006721990.1:p.Gln2298Pro
XM_011524852.1:c.6890A>C XP_011523154.1:p.Gln2297Pro
XM_011524853.1:c.6854A>C XP_011523155.1:p.Gln2285Pro
XM_011524854.1:c.6854A>C XP_011523156.1:p.Gln2285Pro
XM_011524855.1:c.6854A>C XP_011523157.1:p.Gln2285Pro
XM_011524856.1:c.6854A>C XP_011523158.1:p.Gln2285Pro
XM_011524857.1:c.6893A>C XP_011523159.1:p.Gln2298Pro
NM_001042492.3:c.6863A>C MANE Select NP_001035957.1:p.Gln2288Pro