Canonical Allele Identifier: CA350067

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31249094G>A , CM000679.2:g.31249094G>A	GRCh38
NC_000017.10:g.29576112G>A , CM000679.1:g.29576112G>A	GRCh37
NC_000017.9:g.26600238G>A	NCBI36
NG_009018.1:g.159118G>A , LRG_214:g.159118G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4085G>A MANE Select	NP_001035957.1:p.Arg1362Gln
ENST00000358273.9:c.4085G>A MANE Select	ENSP00000351015.4:p.Arg1362Gln
NM_000267.3:c.4085G>A , LRG_214t1:c.4085G>A	NP_000258.1:p.Arg1362Gln
NM_001042492.2:c.4085G>A , LRG_214t2:c.4085G>A	NP_001035957.1:p.Arg1362Gln
ENST00000356175.7:c.4085G>A	ENSP00000348498.3:p.Arg1362Gln
ENST00000358273.8:c.4085G>A	ENSP00000351015.4:p.Arg1362Gln
ENST00000456735.6:c.3083G>A	ENSP00000389907.2:p.Arg1028Gln
ENST00000466819.5:c.561G>A
ENST00000479614.1:c.561G>A
ENST00000493220.5:n.2621G>A
ENST00000495910.6:c.3860G>A
ENST00000579081.5:c.4187G>A	ENSP00000462408.1:p.Arg1396Gln
ENST00000687863.1:n.793G>A
ENST00000691014.1:c.4115G>A	ENSP00000510595.1:p.Arg1372Gln
ENST00000696138.1:c.4130G>A	ENSP00000512431.1:p.Arg1377Gln
ENST00000696139.1:c.1548G>A	ENSP00000512432.1:n.1548G>A
ENST00000696140.1:n.191G>A
XM_005257983.1:c.4085G>A	XP_005258040.1:p.Arg1362Gln
XM_005257984.1:c.4085G>A	XP_005258041.1:p.Arg1362Gln
XM_006721922.1:c.4115G>A	XP_006721985.1:p.Arg1372Gln
XM_006721923.2:c.4076G>A	XP_006721986.1:p.Arg1359Gln
XM_006721924.1:c.4115G>A	XP_006721987.1:p.Arg1372Gln
XM_006721925.1:c.4115G>A	XP_006721988.1:p.Arg1372Gln
XM_006721926.2:c.4115G>A	XP_006721989.1:p.Arg1372Gln
XM_006721927.1:c.4115G>A	XP_006721990.1:p.Arg1372Gln
XM_006721928.2:c.4115G>A	XP_006721991.1:p.Arg1372Gln
XM_011524852.1:c.4112G>A	XP_011523154.1:p.Arg1371Gln
XM_011524853.1:c.4076G>A	XP_011523155.1:p.Arg1359Gln
XM_011524854.1:c.4076G>A	XP_011523156.1:p.Arg1359Gln
XM_011524855.1:c.4076G>A	XP_011523157.1:p.Arg1359Gln
XM_011524856.1:c.4076G>A	XP_011523158.1:p.Arg1359Gln
XM_011524857.1:c.4115G>A	XP_011523159.1:p.Arg1372Gln