Canonical Allele Identifier: CA399010473

Gene: NF1

Linked Data

• dbSNP Id: rs2069454156
• MyVariant Identifiers: chr17:g.29657490A>T (hg19) ; chr17:g.31330472A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330472A>T , CM000679.2:g.31330472A>T	GRCh38
NC_000017.10:g.29657490A>T , CM000679.1:g.29657490A>T	GRCh37
NC_000017.9:g.26681616A>T	NCBI36
NG_009018.1:g.240496A>T , LRG_214:g.240496A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1974A>T	ENSP00000492721.2:n.1974A>T
ENST00000696138.1:c.5768A>T	ENSP00000512431.1:p.Glu1923Val
ENST00000684826.1:c.350A>T	ENSP00000509994.1:p.Glu117Val
ENST00000687027.1:c.-59A>T	ENSP00000508715.1:n.-59A>T
ENST00000687863.1:n.2431A>T
ENST00000691014.1:c.5816A>T	ENSP00000510595.1:p.Glu1939Val
ENST00000693617.1:c.350A>T	ENSP00000510031.1:p.Glu117Val
ENST00000358273.9:c.5786A>T MANE Select	ENSP00000351015.4:p.Glu1929Val
ENST00000356175.7:c.5723A>T	ENSP00000348498.3:p.Glu1908Val
ENST00000358273.8:c.5786A>T	ENSP00000351015.4:p.Glu1929Val
ENST00000456735.6:c.4721A>T	ENSP00000389907.2:p.Glu1574Val
ENST00000479536.2:c.144A>T
ENST00000493220.5:n.4259A>T
ENST00000579081.5:c.5922A>T	ENSP00000462408.1:n.5922A>T
ENST00000581113.6:n.1103A>T
NM_000267.3:c.5723A>T , LRG_214t1:c.5723A>T	NP_000258.1:p.Glu1908Val
NM_001042492.2:c.5786A>T , LRG_214t2:c.5786A>T	NP_001035957.1:p.Glu1929Val
XM_005257983.1:c.5786A>T	XP_005258040.1:p.Glu1929Val
XM_005257984.1:c.5723A>T	XP_005258041.1:p.Glu1908Val
XM_006721922.1:c.5816A>T	XP_006721985.1:p.Glu1939Val
XM_006721923.2:c.5777A>T	XP_006721986.1:p.Glu1926Val
XM_006721924.1:c.5816A>T	XP_006721987.1:p.Glu1939Val
XM_006721925.1:c.5753A>T	XP_006721988.1:p.Glu1918Val
XM_006721926.2:c.5816A>T	XP_006721989.1:p.Glu1939Val
XM_006721927.1:c.5816A>T	XP_006721990.1:p.Glu1939Val
XM_011524852.1:c.5813A>T	XP_011523154.1:p.Glu1938Val
XM_011524853.1:c.5777A>T	XP_011523155.1:p.Glu1926Val
XM_011524854.1:c.5777A>T	XP_011523156.1:p.Glu1926Val
XM_011524855.1:c.5777A>T	XP_011523157.1:p.Glu1926Val
XM_011524856.1:c.5777A>T	XP_011523158.1:p.Glu1926Val
XM_011524857.1:c.5816A>T	XP_011523159.1:p.Glu1939Val
NM_001042492.3:c.5786A>T MANE Select	NP_001035957.1:p.Glu1929Val