Canonical Allele Identifier: CA398995080
Community Standard Title: NM_001042492.3(NF1):c.4098C>G (p.His1366Gln)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31249107C>G , CM000679.2:g.31249107C>G GRCh38
NC_000017.10:g.29576125C>G , CM000679.1:g.29576125C>G GRCh37
NC_000017.9:g.26600251C>G NCBI36
NG_009018.1:g.159131C>G , LRG_214:g.159131C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.4098C>G MANE Select NP_001035957.1:p.His1366Gln
ENST00000358273.9:c.4098C>G MANE Select ENSP00000351015.4:p.His1366Gln
NM_000267.3:c.4098C>G , LRG_214t1:c.4098C>G NP_000258.1:p.His1366Gln
NM_001042492.2:c.4098C>G , LRG_214t2:c.4098C>G NP_001035957.1:p.His1366Gln
ENST00000356175.7:c.4098C>G ENSP00000348498.3:p.His1366Gln
ENST00000358273.8:c.4098C>G ENSP00000351015.4:p.His1366Gln
ENST00000456735.6:c.3096C>G ENSP00000389907.2:p.His1032Gln
ENST00000466819.5:c.574C>G
ENST00000479614.1:c.574C>G
ENST00000493220.5:n.2634C>G
ENST00000495910.6:c.3873C>G
ENST00000579081.5:c.4200C>G ENSP00000462408.1:p.His1400Gln
ENST00000687863.1:n.806C>G
ENST00000691014.1:c.4128C>G ENSP00000510595.1:p.His1376Gln
ENST00000696138.1:c.4143C>G ENSP00000512431.1:p.His1381Gln
ENST00000696139.1:c.1561C>G ENSP00000512432.1:n.1561C>G
ENST00000696140.1:n.204C>G
XM_005257983.1:c.4098C>G XP_005258040.1:p.His1366Gln
XM_005257984.1:c.4098C>G XP_005258041.1:p.His1366Gln
XM_006721922.1:c.4128C>G XP_006721985.1:p.His1376Gln
XM_006721923.2:c.4089C>G XP_006721986.1:p.His1363Gln
XM_006721924.1:c.4128C>G XP_006721987.1:p.His1376Gln
XM_006721925.1:c.4128C>G XP_006721988.1:p.His1376Gln
XM_006721926.2:c.4128C>G XP_006721989.1:p.His1376Gln
XM_006721927.1:c.4128C>G XP_006721990.1:p.His1376Gln
XM_006721928.2:c.4128C>G XP_006721991.1:p.His1376Gln
XM_011524852.1:c.4125C>G XP_011523154.1:p.His1375Gln
XM_011524853.1:c.4089C>G XP_011523155.1:p.His1363Gln
XM_011524854.1:c.4089C>G XP_011523156.1:p.His1363Gln
XM_011524855.1:c.4089C>G XP_011523157.1:p.His1363Gln
XM_011524856.1:c.4089C>G XP_011523158.1:p.His1363Gln
XM_011524857.1:c.4128C>G XP_011523159.1:p.His1376Gln