Canonical Allele Identifier: CA499224548
Gene: NF1 HGNC NCBI

Linked Data

dbSNP Id: rs1299822050

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31214453T>C , CM000679.2:g.31214453T>C GRCh38
NC_000017.10:g.29541471T>C , CM000679.1:g.29541471T>C GRCh37
NC_000017.9:g.26565597T>C NCBI36
NG_009018.1:g.124477T>C , LRG_214:g.124477T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.1440T>C ENSP00000512431.1:p.Ser480=
ENST00000686189.1:c.840T>C ENSP00000509682.1:p.Ser280=
ENST00000691014.1:c.1425T>C ENSP00000510595.1:p.Ser475=
ENST00000358273.9:c.1395T>C MANE Select ENSP00000351015.4:p.Ser465=
ENST00000356175.7:c.1395T>C ENSP00000348498.3:p.Ser465=
ENST00000358273.8:c.1395T>C ENSP00000351015.4:p.Ser465=
ENST00000431387.8:c.1395T>C ENSP00000412921.4:p.Ser465=
ENST00000456735.6:c.393T>C ENSP00000389907.2:p.Ser131=
ENST00000487476.5:n.1778T>C
ENST00000495910.6:c.1170T>C
ENST00000579081.5:c.1497T>C ENSP00000462408.1:p.Ser499=
NM_000267.3:c.1395T>C , LRG_214t1:c.1395T>C NP_000258.1:p.Ser465=
NM_001042492.2:c.1395T>C , LRG_214t2:c.1395T>C NP_001035957.1:p.Ser465=
NM_001128147.2:c.1395T>C NP_001121619.1:p.Ser465=
XM_005257983.1:c.1395T>C XP_005258040.1:p.Ser465=
XM_005257984.1:c.1395T>C XP_005258041.1:p.Ser465=
XM_006721922.1:c.1425T>C XP_006721985.1:p.Ser475=
XM_006721923.2:c.1386T>C XP_006721986.1:p.Ser462=
XM_006721924.1:c.1425T>C XP_006721987.1:p.Ser475=
XM_006721925.1:c.1425T>C XP_006721988.1:p.Ser475=
XM_006721926.2:c.1425T>C XP_006721989.1:p.Ser475=
XM_006721927.1:c.1425T>C XP_006721990.1:p.Ser475=
XM_006721928.2:c.1425T>C XP_006721991.1:p.Ser475=
XM_011524852.1:c.1425T>C XP_011523154.1:p.Ser475=
XM_011524853.1:c.1386T>C XP_011523155.1:p.Ser462=
XM_011524854.1:c.1386T>C XP_011523156.1:p.Ser462=
XM_011524855.1:c.1386T>C XP_011523157.1:p.Ser462=
XM_011524856.1:c.1386T>C XP_011523158.1:p.Ser462=
XM_011524857.1:c.1425T>C XP_011523159.1:p.Ser475=
NM_001042492.3:c.1395T>C MANE Select NP_001035957.1:p.Ser465=
NM_001128147.3:c.1395T>C NP_001121619.1:p.Ser465=