Canonical Allele Identifier: CA399014207
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338131C>A , CM000679.2:g.31338131C>A GRCh38
NC_000017.10:g.29665149C>A , CM000679.1:g.29665149C>A GRCh37
NC_000017.9:g.26689275C>A NCBI36
NG_009018.1:g.248155C>A , LRG_214:g.248155C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.6793C>A ENSP00000512431.1:p.Leu2265Ile
ENST00000684826.1:c.1375C>A ENSP00000509994.1:p.Leu459Ile
ENST00000684998.1:n.2069C>A
ENST00000687027.1:c.967C>A ENSP00000508715.1:p.Leu323Ile
ENST00000687863.1:n.3456C>A
ENST00000691014.1:c.6841C>A ENSP00000510595.1:p.Leu2281Ile
ENST00000693617.1:c.1375C>A ENSP00000510031.1:p.Leu459Ile
ENST00000358273.9:c.6811C>A MANE Select ENSP00000351015.4:p.Leu2271Ile
ENST00000356175.7:c.6748C>A ENSP00000348498.3:p.Leu2250Ile
ENST00000358273.8:c.6811C>A ENSP00000351015.4:p.Leu2271Ile
ENST00000456735.6:c.5746C>A ENSP00000389907.2:p.Leu1916Ile
ENST00000471572.6:c.194C>A
ENST00000579081.5:c.6947C>A ENSP00000462408.1:n.6947C>A
ENST00000581790.5:c.64+251C>A
ENST00000584328.1:n.225C>A
NM_000267.3:c.6748C>A , LRG_214t1:c.6748C>A NP_000258.1:p.Leu2250Ile
NM_001042492.2:c.6811C>A , LRG_214t2:c.6811C>A NP_001035957.1:p.Leu2271Ile
XM_005257983.1:c.6811C>A XP_005258040.1:p.Leu2271Ile
XM_005257984.1:c.6748C>A XP_005258041.1:p.Leu2250Ile
XM_006721922.1:c.6841C>A XP_006721985.1:p.Leu2281Ile
XM_006721923.2:c.6802C>A XP_006721986.1:p.Leu2268Ile
XM_006721924.1:c.6841C>A XP_006721987.1:p.Leu2281Ile
XM_006721925.1:c.6778C>A XP_006721988.1:p.Leu2260Ile
XM_006721926.2:c.6841C>A XP_006721989.1:p.Leu2281Ile
XM_006721927.1:c.6841C>A XP_006721990.1:p.Leu2281Ile
XM_011524852.1:c.6838C>A XP_011523154.1:p.Leu2280Ile
XM_011524853.1:c.6802C>A XP_011523155.1:p.Leu2268Ile
XM_011524854.1:c.6802C>A XP_011523156.1:p.Leu2268Ile
XM_011524855.1:c.6802C>A XP_011523157.1:p.Leu2268Ile
XM_011524856.1:c.6802C>A XP_011523158.1:p.Leu2268Ile
XM_011524857.1:c.6841C>A XP_011523159.1:p.Leu2281Ile
NM_001042492.3:c.6811C>A MANE Select NP_001035957.1:p.Leu2271Ile