Canonical Allele Identifier: CA8486403

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31259125C>T , CM000679.2:g.31259125C>T	GRCh38
NC_000017.10:g.29586143C>T , CM000679.1:g.29586143C>T	GRCh37
NC_000017.9:g.26610269C>T	NCBI36
NG_009018.1:g.169149C>T , LRG_214:g.169149C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4426C>T MANE Select	NP_001035957.1:p.Arg1476Cys
ENST00000358273.9:c.4426C>T MANE Select	ENSP00000351015.4:p.Arg1476Cys
NM_000267.3:c.4363C>T , LRG_214t1:c.4363C>T	NP_000258.1:p.Arg1455Cys
NM_001042492.2:c.4426C>T , LRG_214t2:c.4426C>T	NP_001035957.1:p.Arg1476Cys
ENST00000356175.7:c.4363C>T	ENSP00000348498.3:p.Arg1455Cys
ENST00000358273.8:c.4426C>T	ENSP00000351015.4:p.Arg1476Cys
ENST00000456735.6:c.3361C>T	ENSP00000389907.2:p.Arg1121Cys
ENST00000466819.5:c.942C>T
ENST00000479614.1:c.879C>T
ENST00000493220.5:n.2899C>T
ENST00000579081.5:c.4465C>T	ENSP00000462408.1:p.Arg1489Cys
ENST00000581113.7:c.214C>T	ENSP00000492721.2:p.Arg72Cys
ENST00000687863.1:n.1071C>T
ENST00000691014.1:c.4456C>T	ENSP00000510595.1:p.Arg1486Cys
ENST00000691649.1:n.398C>T
ENST00000696138.1:c.4408C>T	ENSP00000512431.1:p.Arg1470Cys
ENST00000696140.1:n.532C>T
ENST00000696141.1:c.417C>T
XM_005257983.1:c.4426C>T	XP_005258040.1:p.Arg1476Cys
XM_005257984.1:c.4363C>T	XP_005258041.1:p.Arg1455Cys
XM_006721922.1:c.4456C>T	XP_006721985.1:p.Arg1486Cys
XM_006721923.2:c.4417C>T	XP_006721986.1:p.Arg1473Cys
XM_006721924.1:c.4456C>T	XP_006721987.1:p.Arg1486Cys
XM_006721925.1:c.4393C>T	XP_006721988.1:p.Arg1465Cys
XM_006721926.2:c.4456C>T	XP_006721989.1:p.Arg1486Cys
XM_006721927.1:c.4456C>T	XP_006721990.1:p.Arg1486Cys
XM_006721928.2:c.4456C>T	XP_006721991.1:p.Arg1486Cys
XM_011524852.1:c.4453C>T	XP_011523154.1:p.Arg1485Cys
XM_011524853.1:c.4417C>T	XP_011523155.1:p.Arg1473Cys
XM_011524854.1:c.4417C>T	XP_011523156.1:p.Arg1473Cys
XM_011524855.1:c.4417C>T	XP_011523157.1:p.Arg1473Cys
XM_011524856.1:c.4417C>T	XP_011523158.1:p.Arg1473Cys
XM_011524857.1:c.4456C>T	XP_011523159.1:p.Arg1486Cys