Canonical Allele Identifier: CA399000387
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs2151466369

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31261789A>C , CM000679.2:g.31261789A>C GRCh38
NC_000017.10:g.29588807A>C , CM000679.1:g.29588807A>C GRCh37
NC_000017.9:g.26612933A>C NCBI36
NG_009018.1:g.171813A>C , LRG_214:g.171813A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000581113.7:c.458A>C ENSP00000492721.2:p.Asn153Thr
ENST00000696138.1:c.4638A>C ENSP00000512431.1:p.Lys1546Asn
ENST00000696140.1:n.762A>C
ENST00000696141.1:c.647A>C
ENST00000687863.1:n.1301A>C
ENST00000691014.1:c.4686A>C ENSP00000510595.1:p.Lys1562Asn
ENST00000358273.9:c.4656A>C MANE Select ENSP00000351015.4:p.Lys1552Asn
ENST00000356175.7:c.4593A>C ENSP00000348498.3:p.Lys1531Asn
ENST00000358273.8:c.4656A>C ENSP00000351015.4:p.Lys1552Asn
ENST00000456735.6:c.3591A>C ENSP00000389907.2:p.Lys1197Asn
ENST00000466819.5:c.1172A>C
ENST00000479614.1:c.1109A>C
ENST00000493220.5:n.3129A>C
ENST00000579081.5:c.4695A>C ENSP00000462408.1:p.Lys1565Asn
NM_000267.3:c.4593A>C , LRG_214t1:c.4593A>C NP_000258.1:p.Lys1531Asn
NM_001042492.2:c.4656A>C , LRG_214t2:c.4656A>C NP_001035957.1:p.Lys1552Asn
XM_005257983.1:c.4656A>C XP_005258040.1:p.Lys1552Asn
XM_005257984.1:c.4593A>C XP_005258041.1:p.Lys1531Asn
XM_006721922.1:c.4686A>C XP_006721985.1:p.Lys1562Asn
XM_006721923.2:c.4647A>C XP_006721986.1:p.Lys1549Asn
XM_006721924.1:c.4686A>C XP_006721987.1:p.Lys1562Asn
XM_006721925.1:c.4623A>C XP_006721988.1:p.Lys1541Asn
XM_006721926.2:c.4686A>C XP_006721989.1:p.Lys1562Asn
XM_006721927.1:c.4686A>C XP_006721990.1:p.Lys1562Asn
XM_006721928.2:c.4686A>C XP_006721991.1:p.Lys1562Asn
XM_011524852.1:c.4683A>C XP_011523154.1:p.Lys1561Asn
XM_011524853.1:c.4647A>C XP_011523155.1:p.Lys1549Asn
XM_011524854.1:c.4647A>C XP_011523156.1:p.Lys1549Asn
XM_011524855.1:c.4647A>C XP_011523157.1:p.Lys1549Asn
XM_011524856.1:c.4647A>C XP_011523158.1:p.Lys1549Asn
XM_011524857.1:c.4686A>C XP_011523159.1:p.Lys1562Asn
NM_001042492.3:c.4656A>C MANE Select NP_001035957.1:p.Lys1552Asn