Canonical Allele Identifier: CA398997817
Gene: NF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31258399T>C , CM000679.2:g.31258399T>C GRCh38
NC_000017.10:g.29585417T>C , CM000679.1:g.29585417T>C GRCh37
NC_000017.9:g.26609543T>C NCBI36
NG_009018.1:g.168423T>C , LRG_214:g.168423T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.17T>C ENSP00000492721.2:p.Phe6Ser
ENST00000696138.1:c.4211T>C ENSP00000512431.1:p.Phe1404Ser
ENST00000696140.1:n.335T>C
ENST00000696141.1:c.220T>C
ENST00000687863.1:n.874T>C
ENST00000691014.1:c.4259T>C ENSP00000510595.1:p.Phe1420Ser
ENST00000691649.1:n.201T>C
ENST00000358273.9:c.4229T>C MANE Select ENSP00000351015.4:p.Phe1410Ser
ENST00000356175.7:c.4166T>C ENSP00000348498.3:p.Phe1389Ser
ENST00000358273.8:c.4229T>C ENSP00000351015.4:p.Phe1410Ser
ENST00000456735.6:c.3164T>C ENSP00000389907.2:p.Phe1055Ser
ENST00000466819.5:c.745T>C
ENST00000479614.1:c.682T>C
ENST00000493220.5:n.2702T>C
ENST00000579081.5:c.4268T>C ENSP00000462408.1:p.Phe1423Ser
NM_000267.3:c.4166T>C , LRG_214t1:c.4166T>C NP_000258.1:p.Phe1389Ser
NM_001042492.2:c.4229T>C , LRG_214t2:c.4229T>C NP_001035957.1:p.Phe1410Ser
XM_005257983.1:c.4229T>C XP_005258040.1:p.Phe1410Ser
XM_005257984.1:c.4166T>C XP_005258041.1:p.Phe1389Ser
XM_006721922.1:c.4259T>C XP_006721985.1:p.Phe1420Ser
XM_006721923.2:c.4220T>C XP_006721986.1:p.Phe1407Ser
XM_006721924.1:c.4259T>C XP_006721987.1:p.Phe1420Ser
XM_006721925.1:c.4196T>C XP_006721988.1:p.Phe1399Ser
XM_006721926.2:c.4259T>C XP_006721989.1:p.Phe1420Ser
XM_006721927.1:c.4259T>C XP_006721990.1:p.Phe1420Ser
XM_006721928.2:c.4259T>C XP_006721991.1:p.Phe1420Ser
XM_011524852.1:c.4256T>C XP_011523154.1:p.Phe1419Ser
XM_011524853.1:c.4220T>C XP_011523155.1:p.Phe1407Ser
XM_011524854.1:c.4220T>C XP_011523156.1:p.Phe1407Ser
XM_011524855.1:c.4220T>C XP_011523157.1:p.Phe1407Ser
XM_011524856.1:c.4220T>C XP_011523158.1:p.Phe1407Ser
XM_011524857.1:c.4259T>C XP_011523159.1:p.Phe1420Ser
NM_001042492.3:c.4229T>C MANE Select NP_001035957.1:p.Phe1410Ser