Canonical Allele Identifier: CA16615242

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31249019G>A , CM000679.2:g.31249019G>A	GRCh38
NC_000017.10:g.29576037G>A , CM000679.1:g.29576037G>A	GRCh37
NC_000017.9:g.26600163G>A	NCBI36
NG_009018.1:g.159043G>A , LRG_214:g.159043G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4010G>A MANE Select	NP_001035957.1:p.Arg1337Gln
ENST00000358273.9:c.4010G>A MANE Select	ENSP00000351015.4:p.Arg1337Gln
NM_000267.3:c.4010G>A , LRG_214t1:c.4010G>A	NP_000258.1:p.Arg1337Gln
NM_001042492.2:c.4010G>A , LRG_214t2:c.4010G>A	NP_001035957.1:p.Arg1337Gln
ENST00000356175.7:c.4010G>A	ENSP00000348498.3:p.Arg1337Gln
ENST00000358273.8:c.4010G>A	ENSP00000351015.4:p.Arg1337Gln
ENST00000456735.6:c.3008G>A	ENSP00000389907.2:p.Arg1003Gln
ENST00000466819.5:c.486G>A
ENST00000479614.1:c.486G>A
ENST00000493220.5:n.2546G>A
ENST00000495910.6:c.3785G>A
ENST00000579081.5:c.4112G>A	ENSP00000462408.1:p.Arg1371Gln
ENST00000687863.1:n.718G>A
ENST00000691014.1:c.4040G>A	ENSP00000510595.1:p.Arg1347Gln
ENST00000696138.1:c.4055G>A	ENSP00000512431.1:p.Arg1352Gln
ENST00000696139.1:c.1473G>A	ENSP00000512432.1:n.1473G>A
ENST00000696140.1:n.116G>A
XM_005257983.1:c.4010G>A	XP_005258040.1:p.Arg1337Gln
XM_005257984.1:c.4010G>A	XP_005258041.1:p.Arg1337Gln
XM_006721922.1:c.4040G>A	XP_006721985.1:p.Arg1347Gln
XM_006721923.2:c.4001G>A	XP_006721986.1:p.Arg1334Gln
XM_006721924.1:c.4040G>A	XP_006721987.1:p.Arg1347Gln
XM_006721925.1:c.4040G>A	XP_006721988.1:p.Arg1347Gln
XM_006721926.2:c.4040G>A	XP_006721989.1:p.Arg1347Gln
XM_006721927.1:c.4040G>A	XP_006721990.1:p.Arg1347Gln
XM_006721928.2:c.4040G>A	XP_006721991.1:p.Arg1347Gln
XM_011524852.1:c.4037G>A	XP_011523154.1:p.Arg1346Gln
XM_011524853.1:c.4001G>A	XP_011523155.1:p.Arg1334Gln
XM_011524854.1:c.4001G>A	XP_011523156.1:p.Arg1334Gln
XM_011524855.1:c.4001G>A	XP_011523157.1:p.Arg1334Gln
XM_011524856.1:c.4001G>A	XP_011523158.1:p.Arg1334Gln
XM_011524857.1:c.4040G>A	XP_011523159.1:p.Arg1347Gln