Canonical Allele Identifier: CA398984602
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137970
ClinVar RCV Id: RCV003041292
dbSNP Id: rs2151429314

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31229251C>G , CM000679.2:g.31229251C>G GRCh38
NC_000017.10:g.29556269C>G , CM000679.1:g.29556269C>G GRCh37
NC_000017.9:g.26580395C>G NCBI36
NG_009018.1:g.139275C>G , LRG_214:g.139275C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.2681C>G ENSP00000512431.1:p.Ser894Ter
ENST00000691014.1:c.2666C>G ENSP00000510595.1:p.Ser889Ter
ENST00000358273.9:c.2636C>G MANE Select ENSP00000351015.4:p.Ser879Ter
ENST00000356175.7:c.2636C>G ENSP00000348498.3:p.Ser879Ter
ENST00000358273.8:c.2636C>G ENSP00000351015.4:p.Ser879Ter
ENST00000456735.6:c.1634C>G ENSP00000389907.2:p.Ser545Ter
ENST00000493220.5:n.803C>G
ENST00000495910.6:c.2411C>G
ENST00000579081.5:c.2738C>G ENSP00000462408.1:p.Ser913Ter
NM_000267.3:c.2636C>G , LRG_214t1:c.2636C>G NP_000258.1:p.Ser879Ter
NM_001042492.2:c.2636C>G , LRG_214t2:c.2636C>G NP_001035957.1:p.Ser879Ter
XM_005257983.1:c.2636C>G XP_005258040.1:p.Ser879Ter
XM_005257984.1:c.2636C>G XP_005258041.1:p.Ser879Ter
XM_006721922.1:c.2666C>G XP_006721985.1:p.Ser889Ter
XM_006721923.2:c.2627C>G XP_006721986.1:p.Ser876Ter
XM_006721924.1:c.2666C>G XP_006721987.1:p.Ser889Ter
XM_006721925.1:c.2666C>G XP_006721988.1:p.Ser889Ter
XM_006721926.2:c.2666C>G XP_006721989.1:p.Ser889Ter
XM_006721927.1:c.2666C>G XP_006721990.1:p.Ser889Ter
XM_006721928.2:c.2666C>G XP_006721991.1:p.Ser889Ter
XM_011524852.1:c.2663C>G XP_011523154.1:p.Ser888Ter
XM_011524853.1:c.2627C>G XP_011523155.1:p.Ser876Ter
XM_011524854.1:c.2627C>G XP_011523156.1:p.Ser876Ter
XM_011524855.1:c.2627C>G XP_011523157.1:p.Ser876Ter
XM_011524856.1:c.2627C>G XP_011523158.1:p.Ser876Ter
XM_011524857.1:c.2666C>G XP_011523159.1:p.Ser889Ter
NM_001042492.3:c.2636C>G MANE Select NP_001035957.1:p.Ser879Ter