Canonical Allele Identifier: CA399006873
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1048720
ClinVar RCV Id: RCV001353307
dbSNP Id: rs1555533268

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31325820G>C , CM000679.2:g.31325820G>C GRCh38
NC_000017.10:g.29652838G>C , CM000679.1:g.29652838G>C GRCh37
NC_000017.9:g.26676964G>C NCBI36
NG_009018.1:g.235844G>C , LRG_214:g.235844G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000581113.7:c.1024G>C ENSP00000492721.2:n.1024G>C
ENST00000696138.1:c.4818G>C ENSP00000512431.1:p.Arg1606Ser
ENST00000684826.1:c.-601G>C ENSP00000509994.1:n.-601G>C
ENST00000687027.1:c.-668G>C ENSP00000508715.1:n.-668G>C
ENST00000687863.1:n.1481G>C
ENST00000691014.1:c.4866G>C ENSP00000510595.1:p.Arg1622Ser
ENST00000693617.1:c.-601G>C ENSP00000510031.1:n.-601G>C
ENST00000358273.9:c.4836G>C MANE Select ENSP00000351015.4:p.Arg1612Ser
ENST00000356175.7:c.4773G>C ENSP00000348498.3:p.Arg1591Ser
ENST00000358273.8:c.4836G>C ENSP00000351015.4:p.Arg1612Ser
ENST00000456735.6:c.3771G>C ENSP00000389907.2:p.Arg1257Ser
ENST00000493220.5:n.3309G>C
ENST00000579081.5:c.4972G>C ENSP00000462408.1:n.4972G>C
ENST00000581113.6:n.153G>C
NM_000267.3:c.4773G>C , LRG_214t1:c.4773G>C NP_000258.1:p.Arg1591Ser
NM_001042492.2:c.4836G>C , LRG_214t2:c.4836G>C NP_001035957.1:p.Arg1612Ser
XM_005257983.1:c.4836G>C XP_005258040.1:p.Arg1612Ser
XM_005257984.1:c.4773G>C XP_005258041.1:p.Arg1591Ser
XM_006721922.1:c.4866G>C XP_006721985.1:p.Arg1622Ser
XM_006721923.2:c.4827G>C XP_006721986.1:p.Arg1609Ser
XM_006721924.1:c.4866G>C XP_006721987.1:p.Arg1622Ser
XM_006721925.1:c.4803G>C XP_006721988.1:p.Arg1601Ser
XM_006721926.2:c.4866G>C XP_006721989.1:p.Arg1622Ser
XM_006721927.1:c.4866G>C XP_006721990.1:p.Arg1622Ser
XM_011524852.1:c.4863G>C XP_011523154.1:p.Arg1621Ser
XM_011524853.1:c.4827G>C XP_011523155.1:p.Arg1609Ser
XM_011524854.1:c.4827G>C XP_011523156.1:p.Arg1609Ser
XM_011524855.1:c.4827G>C XP_011523157.1:p.Arg1609Ser
XM_011524856.1:c.4827G>C XP_011523158.1:p.Arg1609Ser
XM_011524857.1:c.4866G>C XP_011523159.1:p.Arg1622Ser
NM_001042492.3:c.4836G>C MANE Select NP_001035957.1:p.Arg1612Ser