Canonical Allele Identifier: CA10583463
Gene: NF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237587
ClinVar RCV Id: RCV000228869
dbSNP Id: rs878853909

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31181484G>T , CM000679.2:g.31181484G>T GRCh38
NC_000017.10:g.29508502G>T , CM000679.1:g.29508502G>T GRCh37
NC_000017.9:g.26532628G>T NCBI36
NG_009018.1:g.91508G>T , LRG_214:g.91508G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000696138.1:c.649G>T ENSP00000512431.1:p.Glu217Ter
ENST00000686189.1:c.64G>T ENSP00000509682.1:p.Glu22Ter
ENST00000691014.1:c.649G>T ENSP00000510595.1:p.Glu217Ter
ENST00000358273.9:c.649G>T MANE Select ENSP00000351015.4:p.Glu217Ter
ENST00000490416.2:c.229G>T ENSP00000491431.1:p.Glu77Ter
ENST00000356175.7:c.649G>T ENSP00000348498.3:p.Glu217Ter
ENST00000358273.8:c.649G>T ENSP00000351015.4:p.Glu217Ter
ENST00000431387.8:c.649G>T ENSP00000412921.4:p.Glu217Ter
ENST00000487476.5:n.1032G>T
ENST00000490416.1:n.283G>T
ENST00000495910.6:c.424G>T
ENST00000579081.5:c.751G>T ENSP00000462408.1:p.Glu251Ter
NM_000267.3:c.649G>T , LRG_214t1:c.649G>T NP_000258.1:p.Glu217Ter
NM_001042492.2:c.649G>T , LRG_214t2:c.649G>T NP_001035957.1:p.Glu217Ter
NM_001128147.2:c.649G>T NP_001121619.1:p.Glu217Ter
XM_005257983.1:c.649G>T XP_005258040.1:p.Glu217Ter
XM_005257984.1:c.649G>T XP_005258041.1:p.Glu217Ter
XM_006721922.1:c.649G>T XP_006721985.1:p.Glu217Ter
XM_006721923.2:c.610G>T XP_006721986.1:p.Glu204Ter
XM_006721924.1:c.649G>T XP_006721987.1:p.Glu217Ter
XM_006721925.1:c.649G>T XP_006721988.1:p.Glu217Ter
XM_006721926.2:c.649G>T XP_006721989.1:p.Glu217Ter
XM_006721927.1:c.649G>T XP_006721990.1:p.Glu217Ter
XM_006721928.2:c.649G>T XP_006721991.1:p.Glu217Ter
XM_011524852.1:c.649G>T XP_011523154.1:p.Glu217Ter
XM_011524853.1:c.610G>T XP_011523155.1:p.Glu204Ter
XM_011524854.1:c.610G>T XP_011523156.1:p.Glu204Ter
XM_011524855.1:c.610G>T XP_011523157.1:p.Glu204Ter
XM_011524856.1:c.610G>T XP_011523158.1:p.Glu204Ter
XM_011524857.1:c.649G>T XP_011523159.1:p.Glu217Ter
NM_001042492.3:c.649G>T MANE Select NP_001035957.1:p.Glu217Ter
NM_001128147.3:c.649G>T NP_001121619.1:p.Glu217Ter