Canonical Allele Identifier: CA398997598

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258367G>T , CM000679.2:g.31258367G>T	GRCh38
NC_000017.10:g.29585385G>T , CM000679.1:g.29585385G>T	GRCh37
NC_000017.9:g.26609511G>T	NCBI36
NG_009018.1:g.168391G>T , LRG_214:g.168391G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4197G>T MANE Select	NP_001035957.1:p.Gln1399His
ENST00000358273.9:c.4197G>T MANE Select	ENSP00000351015.4:p.Gln1399His
NM_000267.3:c.4134G>T , LRG_214t1:c.4134G>T	NP_000258.1:p.Gln1378His
NM_001042492.2:c.4197G>T , LRG_214t2:c.4197G>T	NP_001035957.1:p.Gln1399His
ENST00000356175.7:c.4134G>T	ENSP00000348498.3:p.Gln1378His
ENST00000358273.8:c.4197G>T	ENSP00000351015.4:p.Gln1399His
ENST00000456735.6:c.3132G>T	ENSP00000389907.2:p.Gln1044His
ENST00000466819.5:c.713G>T
ENST00000479614.1:c.650G>T
ENST00000493220.5:n.2670G>T
ENST00000579081.5:c.4236G>T	ENSP00000462408.1:p.Gln1412His
ENST00000687863.1:n.842G>T
ENST00000691014.1:c.4227G>T	ENSP00000510595.1:p.Gln1409His
ENST00000691649.1:n.169G>T
ENST00000696138.1:c.4179G>T	ENSP00000512431.1:p.Gln1393His
ENST00000696140.1:n.303G>T
ENST00000696141.1:c.188G>T
XM_005257983.1:c.4197G>T	XP_005258040.1:p.Gln1399His
XM_005257984.1:c.4134G>T	XP_005258041.1:p.Gln1378His
XM_006721922.1:c.4227G>T	XP_006721985.1:p.Gln1409His
XM_006721923.2:c.4188G>T	XP_006721986.1:p.Gln1396His
XM_006721924.1:c.4227G>T	XP_006721987.1:p.Gln1409His
XM_006721925.1:c.4164G>T	XP_006721988.1:p.Gln1388His
XM_006721926.2:c.4227G>T	XP_006721989.1:p.Gln1409His
XM_006721927.1:c.4227G>T	XP_006721990.1:p.Gln1409His
XM_006721928.2:c.4227G>T	XP_006721991.1:p.Gln1409His
XM_011524852.1:c.4224G>T	XP_011523154.1:p.Gln1408His
XM_011524853.1:c.4188G>T	XP_011523155.1:p.Gln1396His
XM_011524854.1:c.4188G>T	XP_011523156.1:p.Gln1396His
XM_011524855.1:c.4188G>T	XP_011523157.1:p.Gln1396His
XM_011524856.1:c.4188G>T	XP_011523158.1:p.Gln1396His
XM_011524857.1:c.4227G>T	XP_011523159.1:p.Gln1409His