Canonical Allele Identifier: CA2255602881
Community Standard Title: NM_001042492.3(NF1):c.6818A= (p.Lys2273=)
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31338138A= , CM000679.2:g.31338138A= GRCh38
NC_000017.10:g.29665156A= , CM000679.1:g.29665156A= GRCh37
NC_000017.9:g.26689282A= NCBI36
NG_009018.1:g.248162A= , LRG_214:g.248162A=

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.6818A= MANE Select NP_001035957.1:p.Lys2273=
ENST00000358273.9:c.6818A= MANE Select ENSP00000351015.4:p.Lys2273=
NM_000267.3:c.6755A= , LRG_214t1:c.6755A= NP_000258.1:p.Lys2252=
NM_001042492.2:c.6818A= , LRG_214t2:c.6818A= NP_001035957.1:p.Lys2273=
ENST00000356175.7:c.6755A= ENSP00000348498.3:p.Lys2252=
ENST00000358273.8:c.6818A= ENSP00000351015.4:p.Lys2273=
ENST00000456735.6:c.5753A= ENSP00000389907.2:p.Lys1918=
ENST00000471572.6:c.201A=
ENST00000579081.5:c.6954A= ENSP00000462408.1:n.6954A=
ENST00000581790.5:c.64+258A=
ENST00000584328.1:n.232A=
ENST00000684826.1:c.1382A= ENSP00000509994.1:p.Lys461=
ENST00000684998.1:n.2076A=
ENST00000687027.1:c.974A= ENSP00000508715.1:p.Lys325=
ENST00000687863.1:n.3463A=
ENST00000691014.1:c.6848A= ENSP00000510595.1:p.Lys2283=
ENST00000693617.1:c.1382A= ENSP00000510031.1:p.Lys461=
ENST00000696138.1:c.6800A= ENSP00000512431.1:p.Lys2267=
XM_005257983.1:c.6818A= XP_005258040.1:p.Lys2273=
XM_005257984.1:c.6755A= XP_005258041.1:p.Lys2252=
XM_006721922.1:c.6848A= XP_006721985.1:p.Lys2283=
XM_006721923.2:c.6809A= XP_006721986.1:p.Lys2270=
XM_006721924.1:c.6848A= XP_006721987.1:p.Lys2283=
XM_006721925.1:c.6785A= XP_006721988.1:p.Lys2262=
XM_006721926.2:c.6848A= XP_006721989.1:p.Lys2283=
XM_006721927.1:c.6848A= XP_006721990.1:p.Lys2283=
XM_011524852.1:c.6845A= XP_011523154.1:p.Lys2282=
XM_011524853.1:c.6809A= XP_011523155.1:p.Lys2270=
XM_011524854.1:c.6809A= XP_011523156.1:p.Lys2270=
XM_011524855.1:c.6809A= XP_011523157.1:p.Lys2270=
XM_011524856.1:c.6809A= XP_011523158.1:p.Lys2270=
XM_011524857.1:c.6848A= XP_011523159.1:p.Lys2283=