Canonical Allele Identifier: CA399000350
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261781G>T , CM000679.2:g.31261781G>T GRCh38
NC_000017.10:g.29588799G>T , CM000679.1:g.29588799G>T GRCh37
NC_000017.9:g.26612925G>T NCBI36
NG_009018.1:g.171805G>T , LRG_214:g.171805G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.450G>T ENSP00000492721.2:p.Gln150His
ENST00000696138.1:c.4630G>T ENSP00000512431.1:p.Glu1544Ter
ENST00000696140.1:n.754G>T
ENST00000696141.1:c.639G>T
ENST00000687863.1:n.1293G>T
ENST00000691014.1:c.4678G>T ENSP00000510595.1:p.Glu1560Ter
ENST00000358273.9:c.4648G>T MANE Select ENSP00000351015.4:p.Glu1550Ter
ENST00000356175.7:c.4585G>T ENSP00000348498.3:p.Glu1529Ter
ENST00000358273.8:c.4648G>T ENSP00000351015.4:p.Glu1550Ter
ENST00000456735.6:c.3583G>T ENSP00000389907.2:p.Glu1195Ter
ENST00000466819.5:c.1164G>T
ENST00000479614.1:c.1101G>T
ENST00000493220.5:n.3121G>T
ENST00000579081.5:c.4687G>T ENSP00000462408.1:p.Glu1563Ter
NM_000267.3:c.4585G>T , LRG_214t1:c.4585G>T NP_000258.1:p.Glu1529Ter
NM_001042492.2:c.4648G>T , LRG_214t2:c.4648G>T NP_001035957.1:p.Glu1550Ter
XM_005257983.1:c.4648G>T XP_005258040.1:p.Glu1550Ter
XM_005257984.1:c.4585G>T XP_005258041.1:p.Glu1529Ter
XM_006721922.1:c.4678G>T XP_006721985.1:p.Glu1560Ter
XM_006721923.2:c.4639G>T XP_006721986.1:p.Glu1547Ter
XM_006721924.1:c.4678G>T XP_006721987.1:p.Glu1560Ter
XM_006721925.1:c.4615G>T XP_006721988.1:p.Glu1539Ter
XM_006721926.2:c.4678G>T XP_006721989.1:p.Glu1560Ter
XM_006721927.1:c.4678G>T XP_006721990.1:p.Glu1560Ter
XM_006721928.2:c.4678G>T XP_006721991.1:p.Glu1560Ter
XM_011524852.1:c.4675G>T XP_011523154.1:p.Glu1559Ter
XM_011524853.1:c.4639G>T XP_011523155.1:p.Glu1547Ter
XM_011524854.1:c.4639G>T XP_011523156.1:p.Glu1547Ter
XM_011524855.1:c.4639G>T XP_011523157.1:p.Glu1547Ter
XM_011524856.1:c.4639G>T XP_011523158.1:p.Glu1547Ter
XM_011524857.1:c.4678G>T XP_011523159.1:p.Glu1560Ter
NM_001042492.3:c.4648G>T MANE Select NP_001035957.1:p.Glu1550Ter