Canonical Allele Identifier: CA399000475
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2067691658

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261809G>C , CM000679.2:g.31261809G>C GRCh38
NC_000017.10:g.29588827G>C , CM000679.1:g.29588827G>C GRCh37
NC_000017.9:g.26612953G>C NCBI36
NG_009018.1:g.171833G>C , LRG_214:g.171833G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.478G>C ENSP00000492721.2:p.Gly160Arg
ENST00000696138.1:c.4658G>C ENSP00000512431.1:p.Trp1553Ser
ENST00000696140.1:n.782G>C
ENST00000696141.1:c.667G>C
ENST00000687863.1:n.1321G>C
ENST00000691014.1:c.4706G>C ENSP00000510595.1:p.Trp1569Ser
ENST00000358273.9:c.4676G>C MANE Select ENSP00000351015.4:p.Trp1559Ser
ENST00000356175.7:c.4613G>C ENSP00000348498.3:p.Trp1538Ser
ENST00000358273.8:c.4676G>C ENSP00000351015.4:p.Trp1559Ser
ENST00000456735.6:c.3611G>C ENSP00000389907.2:p.Trp1204Ser
ENST00000493220.5:n.3149G>C
ENST00000579081.5:c.4715G>C ENSP00000462408.1:p.Trp1572Ser
NM_000267.3:c.4613G>C , LRG_214t1:c.4613G>C NP_000258.1:p.Trp1538Ser
NM_001042492.2:c.4676G>C , LRG_214t2:c.4676G>C NP_001035957.1:p.Trp1559Ser
XM_005257983.1:c.4676G>C XP_005258040.1:p.Trp1559Ser
XM_005257984.1:c.4613G>C XP_005258041.1:p.Trp1538Ser
XM_006721922.1:c.4706G>C XP_006721985.1:p.Trp1569Ser
XM_006721923.2:c.4667G>C XP_006721986.1:p.Trp1556Ser
XM_006721924.1:c.4706G>C XP_006721987.1:p.Trp1569Ser
XM_006721925.1:c.4643G>C XP_006721988.1:p.Trp1548Ser
XM_006721926.2:c.4706G>C XP_006721989.1:p.Trp1569Ser
XM_006721927.1:c.4706G>C XP_006721990.1:p.Trp1569Ser
XM_006721928.2:c.4706G>C XP_006721991.1:p.Trp1569Ser
XM_011524852.1:c.4703G>C XP_011523154.1:p.Trp1568Ser
XM_011524853.1:c.4667G>C XP_011523155.1:p.Trp1556Ser
XM_011524854.1:c.4667G>C XP_011523156.1:p.Trp1556Ser
XM_011524855.1:c.4667G>C XP_011523157.1:p.Trp1556Ser
XM_011524856.1:c.4667G>C XP_011523158.1:p.Trp1556Ser
XM_011524857.1:c.4706G>C XP_011523159.1:p.Trp1569Ser
NM_001042492.3:c.4676G>C MANE Select NP_001035957.1:p.Trp1559Ser