Canonical Allele Identifier: CA251435
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 335
ClinVar RCV Id: RCV000000363
dbSNP Id: rs267606595

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31334933A>T , CM000679.2:g.31334933A>T GRCh38
NC_000017.10:g.29661951A>T , CM000679.1:g.29661951A>T GRCh37
NC_000017.9:g.26686077A>T NCBI36
NG_009018.1:g.244957A>T , LRG_214:g.244957A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.2096A>T ENSP00000492721.2:n.2096A>T
ENST00000696138.1:c.5890A>T ENSP00000512431.1:p.Arg1964Ter
ENST00000684826.1:c.472A>T ENSP00000509994.1:p.Arg158Ter
ENST00000687027.1:c.64A>T ENSP00000508715.1:p.Arg22Ter
ENST00000687863.1:n.2553A>T
ENST00000691014.1:c.5938A>T ENSP00000510595.1:p.Arg1980Ter
ENST00000693617.1:c.472A>T ENSP00000510031.1:p.Arg158Ter
ENST00000358273.9:c.5908A>T MANE Select ENSP00000351015.4:p.Arg1970Ter
ENST00000356175.7:c.5845A>T ENSP00000348498.3:p.Arg1949Ter
ENST00000358273.8:c.5908A>T ENSP00000351015.4:p.Arg1970Ter
ENST00000456735.6:c.4843A>T ENSP00000389907.2:p.Arg1615Ter
ENST00000479536.2:c.333A>T
ENST00000579081.5:c.6044A>T ENSP00000462408.1:n.6044A>T
ENST00000581113.6:n.1225A>T
NM_000267.3:c.5845A>T , LRG_214t1:c.5845A>T NP_000258.1:p.Arg1949Ter
NM_001042492.2:c.5908A>T , LRG_214t2:c.5908A>T NP_001035957.1:p.Arg1970Ter
XM_005257983.1:c.5908A>T XP_005258040.1:p.Arg1970Ter
XM_005257984.1:c.5845A>T XP_005258041.1:p.Arg1949Ter
XM_006721922.1:c.5938A>T XP_006721985.1:p.Arg1980Ter
XM_006721923.2:c.5899A>T XP_006721986.1:p.Arg1967Ter
XM_006721924.1:c.5938A>T XP_006721987.1:p.Arg1980Ter
XM_006721925.1:c.5875A>T XP_006721988.1:p.Arg1959Ter
XM_006721926.2:c.5938A>T XP_006721989.1:p.Arg1980Ter
XM_006721927.1:c.5938A>T XP_006721990.1:p.Arg1980Ter
XM_011524852.1:c.5935A>T XP_011523154.1:p.Arg1979Ter
XM_011524853.1:c.5899A>T XP_011523155.1:p.Arg1967Ter
XM_011524854.1:c.5899A>T XP_011523156.1:p.Arg1967Ter
XM_011524855.1:c.5899A>T XP_011523157.1:p.Arg1967Ter
XM_011524856.1:c.5899A>T XP_011523158.1:p.Arg1967Ter
XM_011524857.1:c.5938A>T XP_011523159.1:p.Arg1980Ter
NM_001042492.3:c.5908A>T MANE Select NP_001035957.1:p.Arg1970Ter