Canonical Allele Identifier: CA399010465

Gene: NF1

Linked Data

• dbSNP Id: rs2069453957
• MyVariant Identifiers: chr17:g.29657487A>T (hg19) ; chr17:g.31330469A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330469A>T , CM000679.2:g.31330469A>T	GRCh38
NC_000017.10:g.29657487A>T , CM000679.1:g.29657487A>T	GRCh37
NC_000017.9:g.26681613A>T	NCBI36
NG_009018.1:g.240493A>T , LRG_214:g.240493A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1971A>T	ENSP00000492721.2:n.1971A>T
ENST00000696138.1:c.5765A>T	ENSP00000512431.1:p.Glu1922Val
ENST00000684826.1:c.347A>T	ENSP00000509994.1:p.Glu116Val
ENST00000687027.1:c.-62A>T	ENSP00000508715.1:n.-62A>T
ENST00000687863.1:n.2428A>T
ENST00000691014.1:c.5813A>T	ENSP00000510595.1:p.Glu1938Val
ENST00000693617.1:c.347A>T	ENSP00000510031.1:p.Glu116Val
ENST00000358273.9:c.5783A>T MANE Select	ENSP00000351015.4:p.Glu1928Val
ENST00000356175.7:c.5720A>T	ENSP00000348498.3:p.Glu1907Val
ENST00000358273.8:c.5783A>T	ENSP00000351015.4:p.Glu1928Val
ENST00000456735.6:c.4718A>T	ENSP00000389907.2:p.Glu1573Val
ENST00000479536.2:c.141A>T
ENST00000493220.5:n.4256A>T
ENST00000579081.5:c.5919A>T	ENSP00000462408.1:n.5919A>T
ENST00000581113.6:n.1100A>T
NM_000267.3:c.5720A>T , LRG_214t1:c.5720A>T	NP_000258.1:p.Glu1907Val
NM_001042492.2:c.5783A>T , LRG_214t2:c.5783A>T	NP_001035957.1:p.Glu1928Val
XM_005257983.1:c.5783A>T	XP_005258040.1:p.Glu1928Val
XM_005257984.1:c.5720A>T	XP_005258041.1:p.Glu1907Val
XM_006721922.1:c.5813A>T	XP_006721985.1:p.Glu1938Val
XM_006721923.2:c.5774A>T	XP_006721986.1:p.Glu1925Val
XM_006721924.1:c.5813A>T	XP_006721987.1:p.Glu1938Val
XM_006721925.1:c.5750A>T	XP_006721988.1:p.Glu1917Val
XM_006721926.2:c.5813A>T	XP_006721989.1:p.Glu1938Val
XM_006721927.1:c.5813A>T	XP_006721990.1:p.Glu1938Val
XM_011524852.1:c.5810A>T	XP_011523154.1:p.Glu1937Val
XM_011524853.1:c.5774A>T	XP_011523155.1:p.Glu1925Val
XM_011524854.1:c.5774A>T	XP_011523156.1:p.Glu1925Val
XM_011524855.1:c.5774A>T	XP_011523157.1:p.Glu1925Val
XM_011524856.1:c.5774A>T	XP_011523158.1:p.Glu1925Val
XM_011524857.1:c.5813A>T	XP_011523159.1:p.Glu1938Val
NM_001042492.3:c.5783A>T MANE Select	NP_001035957.1:p.Glu1928Val