Canonical Allele Identifier: CA398992279

Gene: NF1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31235614G>C , CM000679.2:g.31235614G>C	GRCh38
NC_000017.10:g.29562632G>C , CM000679.1:g.29562632G>C	GRCh37
NC_000017.9:g.26586758G>C	NCBI36
NG_009018.1:g.145638G>C , LRG_214:g.145638G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3757G>C	ENSP00000512431.1:p.Glu1253Gln
ENST00000696139.1:c.1057G>C	ENSP00000512432.1:p.Glu353Gln
ENST00000687863.1:n.420G>C
ENST00000691014.1:c.3742G>C	ENSP00000510595.1:p.Glu1248Gln
ENST00000358273.9:c.3712G>C MANE Select	ENSP00000351015.4:p.Glu1238Gln
ENST00000356175.7:c.3712G>C	ENSP00000348498.3:p.Glu1238Gln
ENST00000358273.8:c.3712G>C	ENSP00000351015.4:p.Glu1238Gln
ENST00000456735.6:c.2710G>C	ENSP00000389907.2:p.Glu904Gln
ENST00000466819.5:c.188G>C
ENST00000479614.1:c.188G>C
ENST00000493220.5:n.2248G>C
ENST00000495910.6:c.3487G>C
ENST00000579081.5:c.3814G>C	ENSP00000462408.1:p.Glu1272Gln
NM_000267.3:c.3712G>C , LRG_214t1:c.3712G>C	NP_000258.1:p.Glu1238Gln
NM_001042492.2:c.3712G>C , LRG_214t2:c.3712G>C	NP_001035957.1:p.Glu1238Gln
XM_005257983.1:c.3712G>C	XP_005258040.1:p.Glu1238Gln
XM_005257984.1:c.3712G>C	XP_005258041.1:p.Glu1238Gln
XM_006721922.1:c.3742G>C	XP_006721985.1:p.Glu1248Gln
XM_006721923.2:c.3703G>C	XP_006721986.1:p.Glu1235Gln
XM_006721924.1:c.3742G>C	XP_006721987.1:p.Glu1248Gln
XM_006721925.1:c.3742G>C	XP_006721988.1:p.Glu1248Gln
XM_006721926.2:c.3742G>C	XP_006721989.1:p.Glu1248Gln
XM_006721927.1:c.3742G>C	XP_006721990.1:p.Glu1248Gln
XM_006721928.2:c.3742G>C	XP_006721991.1:p.Glu1248Gln
XM_011524852.1:c.3739G>C	XP_011523154.1:p.Glu1247Gln
XM_011524853.1:c.3703G>C	XP_011523155.1:p.Glu1235Gln
XM_011524854.1:c.3703G>C	XP_011523156.1:p.Glu1235Gln
XM_011524855.1:c.3703G>C	XP_011523157.1:p.Glu1235Gln
XM_011524856.1:c.3703G>C	XP_011523158.1:p.Glu1235Gln
XM_011524857.1:c.3742G>C	XP_011523159.1:p.Glu1248Gln
NM_001042492.3:c.3712G>C MANE Select	NP_001035957.1:p.Glu1238Gln