Canonical Allele Identifier: CA2255605031
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31342989C= , CM000679.2:g.31342989C= GRCh38
NC_000017.10:g.29670007C= , CM000679.1:g.29670007C= GRCh37
NC_000017.9:g.26694133C= NCBI36
NG_009018.1:g.253013C= , LRG_214:g.253013C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000696138.1:c.7045-20C= ENSP00000512431.1:n.7045-20C=
ENST00000684826.1:c.1627-20C= ENSP00000509994.1:n.1627-20C=
ENST00000687027.1:c.1219-20C= ENSP00000508715.1:n.1219-20C=
ENST00000687863.1:n.3708-20C=
ENST00000691014.1:c.7093-20C= ENSP00000510595.1:n.7093-20C=
ENST00000693617.1:c.1627-20C= ENSP00000510031.1:n.1627-20C=
ENST00000358273.9:c.7063-20C= MANE Select ENSP00000351015.4:n.7063-20C=
ENST00000356175.7:c.7000-20C= ENSP00000348498.3:n.7000-20C=
ENST00000358273.8:c.7063-20C= ENSP00000351015.4:n.7063-20C=
ENST00000456735.6:c.5998-20C= ENSP00000389907.2:n.5998-20C=
ENST00000471572.6:c.446-20C=
ENST00000579081.5:c.7199-20C= ENSP00000462408.1:n.7199-20C=
ENST00000581790.5:c.206-20C=
ENST00000582892.1:n.305-20C=
ENST00000584328.1:n.477-20C=
NM_000267.3:c.7000-20C= , LRG_214t1:c.7000-20C= NP_000258.1:n.7000-20C=
NM_001042492.2:c.7063-20C= , LRG_214t2:c.7063-20C= NP_001035957.1:n.7063-20C=
XM_005257983.1:c.7063-20C= XP_005258040.1:n.7063-20C=
XM_005257984.1:c.7000-20C= XP_005258041.1:n.7000-20C=
XM_006721922.1:c.7093-20C= XP_006721985.1:n.7093-20C=
XM_006721923.2:c.7054-20C= XP_006721986.1:n.7054-20C=
XM_006721924.1:c.7093-20C= XP_006721987.1:n.7093-20C=
XM_006721925.1:c.7030-20C= XP_006721988.1:n.7030-20C=
XM_006721926.2:c.7093-20C= XP_006721989.1:n.7093-20C=
XM_006721927.1:c.7093-20C= XP_006721990.1:n.7093-20C=
XM_011524852.1:c.7090-20C= XP_011523154.1:n.7090-20C=
XM_011524853.1:c.7054-20C= XP_011523155.1:n.7054-20C=
XM_011524854.1:c.7054-20C= XP_011523156.1:n.7054-20C=
XM_011524855.1:c.7054-20C= XP_011523157.1:n.7054-20C=
XM_011524856.1:c.7054-20C= XP_011523158.1:n.7054-20C=
XM_011524857.1:c.7093-20C= XP_011523159.1:n.7093-20C=
NM_001042492.3:c.7063-20C= MANE Select NP_001035957.1:n.7063-20C=