Canonical Allele Identifier: CA8486326
Community Standard Title: NM_001042492.3(NF1):c.4110+3A>C
Gene: NF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.31249122A>C , CM000679.2:g.31249122A>C GRCh38
NC_000017.10:g.29576140A>C , CM000679.1:g.29576140A>C GRCh37
NC_000017.9:g.26600266A>C NCBI36
NG_009018.1:g.159146A>C , LRG_214:g.159146A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001042492.3:c.4110+3A>C MANE Select NP_001035957.1:n.4110+3A>C
ENST00000358273.9:c.4110+3A>C MANE Select ENSP00000351015.4:n.4110+3A>C
NM_000267.3:c.4110+3A>C , LRG_214t1:c.4110+3A>C NP_000258.1:n.4110+3A>C
NM_001042492.2:c.4110+3A>C , LRG_214t2:c.4110+3A>C NP_001035957.1:n.4110+3A>C
ENST00000356175.7:c.4110+3A>C ENSP00000348498.3:n.4110+3A>C
ENST00000358273.8:c.4110+3A>C ENSP00000351015.4:n.4110+3A>C
ENST00000456735.6:c.3108+3A>C ENSP00000389907.2:n.3108+3A>C
ENST00000466819.5:c.586+3A>C
ENST00000479614.1:c.586+3A>C
ENST00000493220.5:n.2646+3A>C
ENST00000495910.6:c.3885+3A>C
ENST00000579081.5:c.4212+3A>C ENSP00000462408.1:n.4212+3A>C
ENST00000687863.1:n.818+3A>C
ENST00000691014.1:c.4140+3A>C ENSP00000510595.1:n.4140+3A>C
ENST00000696138.1:c.4155+3A>C ENSP00000512431.1:n.4155+3A>C
ENST00000696139.1:c.1573+3A>C ENSP00000512432.1:n.1573+3A>C
ENST00000696140.1:n.216+3A>C
ENST00000696141.1:c.2+3A>C
XM_005257983.1:c.4110+3A>C XP_005258040.1:n.4110+3A>C
XM_005257984.1:c.4110+3A>C XP_005258041.1:n.4110+3A>C
XM_006721922.1:c.4140+3A>C XP_006721985.1:n.4140+3A>C
XM_006721923.2:c.4101+3A>C XP_006721986.1:n.4101+3A>C
XM_006721924.1:c.4140+3A>C XP_006721987.1:n.4140+3A>C
XM_006721925.1:c.4140+3A>C XP_006721988.1:n.4140+3A>C
XM_006721926.2:c.4140+3A>C XP_006721989.1:n.4140+3A>C
XM_006721927.1:c.4140+3A>C XP_006721990.1:n.4140+3A>C
XM_006721928.2:c.4140+3A>C XP_006721991.1:n.4140+3A>C
XM_011524852.1:c.4137+3A>C XP_011523154.1:n.4137+3A>C
XM_011524853.1:c.4101+3A>C XP_011523155.1:n.4101+3A>C
XM_011524854.1:c.4101+3A>C XP_011523156.1:n.4101+3A>C
XM_011524855.1:c.4101+3A>C XP_011523157.1:n.4101+3A>C
XM_011524856.1:c.4101+3A>C XP_011523158.1:n.4101+3A>C
XM_011524857.1:c.4140+3A>C XP_011523159.1:n.4140+3A>C