Canonical Allele Identifier: CA398982101

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31226486A>T , CM000679.2:g.31226486A>T	GRCh38
NC_000017.10:g.29553504A>T , CM000679.1:g.29553504A>T	GRCh37
NC_000017.9:g.26577630A>T	NCBI36
NG_009018.1:g.136510A>T , LRG_214:g.136510A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.2053A>T MANE Select	NP_001035957.1:p.Thr685Ser
ENST00000358273.9:c.2053A>T MANE Select	ENSP00000351015.4:p.Thr685Ser
NM_000267.3:c.2053A>T , LRG_214t1:c.2053A>T	NP_000258.1:p.Thr685Ser
NM_001042492.2:c.2053A>T , LRG_214t2:c.2053A>T	NP_001035957.1:p.Thr685Ser
ENST00000356175.7:c.2053A>T	ENSP00000348498.3:p.Thr685Ser
ENST00000358273.8:c.2053A>T	ENSP00000351015.4:p.Thr685Ser
ENST00000456735.6:c.1051A>T	ENSP00000389907.2:p.Thr351Ser
ENST00000493220.5:n.220A>T
ENST00000495910.6:c.1828A>T
ENST00000579081.5:c.2155A>T	ENSP00000462408.1:p.Thr719Ser
ENST00000691014.1:c.2083A>T	ENSP00000510595.1:p.Thr695Ser
ENST00000696138.1:c.2098A>T	ENSP00000512431.1:p.Thr700Ser
XM_005257983.1:c.2053A>T	XP_005258040.1:p.Thr685Ser
XM_005257984.1:c.2053A>T	XP_005258041.1:p.Thr685Ser
XM_006721922.1:c.2083A>T	XP_006721985.1:p.Thr695Ser
XM_006721923.2:c.2044A>T	XP_006721986.1:p.Thr682Ser
XM_006721924.1:c.2083A>T	XP_006721987.1:p.Thr695Ser
XM_006721925.1:c.2083A>T	XP_006721988.1:p.Thr695Ser
XM_006721926.2:c.2083A>T	XP_006721989.1:p.Thr695Ser
XM_006721927.1:c.2083A>T	XP_006721990.1:p.Thr695Ser
XM_006721928.2:c.2083A>T	XP_006721991.1:p.Thr695Ser
XM_011524852.1:c.2080A>T	XP_011523154.1:p.Thr694Ser
XM_011524853.1:c.2044A>T	XP_011523155.1:p.Thr682Ser
XM_011524854.1:c.2044A>T	XP_011523156.1:p.Thr682Ser
XM_011524855.1:c.2044A>T	XP_011523157.1:p.Thr682Ser
XM_011524856.1:c.2044A>T	XP_011523158.1:p.Thr682Ser
XM_011524857.1:c.2083A>T	XP_011523159.1:p.Thr695Ser