Canonical Allele Identifier: CA399001203

Gene: NF1

Linked Data

• ClinVar Variation Id: 1511500
• ClinVar RCV Id: RCV002016764
• dbSNP Id: rs144091165
• MyVariant Identifiers: chr17:g.29592271A>T (hg19) ; chr17:g.31265253A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265253A>T , CM000679.2:g.31265253A>T	GRCh38
NC_000017.10:g.29592271A>T , CM000679.1:g.29592271A>T	GRCh37
NC_000017.9:g.26616397A>T	NCBI36
NG_009018.1:g.175277A>T , LRG_214:g.175277A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.551A>T	ENSP00000492721.2:n.551A>T
ENST00000696138.1:c.4731A>T	ENSP00000512431.1:p.Glu1577Asp
ENST00000696140.1:n.855A>T
ENST00000696141.1:c.740A>T
ENST00000687863.1:n.1394A>T
ENST00000691014.1:c.4779A>T	ENSP00000510595.1:p.Glu1593Asp
ENST00000358273.9:c.4749A>T MANE Select	ENSP00000351015.4:p.Glu1583Asp
ENST00000356175.7:c.4686A>T	ENSP00000348498.3:p.Glu1562Asp
ENST00000358273.8:c.4749A>T	ENSP00000351015.4:p.Glu1583Asp
ENST00000456735.6:c.3684A>T	ENSP00000389907.2:p.Glu1228Asp
ENST00000493220.5:n.3222A>T
ENST00000579081.5:c.4788A>T	ENSP00000462408.1:p.Glu1596Asp
NM_000267.3:c.4686A>T , LRG_214t1:c.4686A>T	NP_000258.1:p.Glu1562Asp
NM_001042492.2:c.4749A>T , LRG_214t2:c.4749A>T	NP_001035957.1:p.Glu1583Asp
XM_005257983.1:c.4749A>T	XP_005258040.1:p.Glu1583Asp
XM_005257984.1:c.4686A>T	XP_005258041.1:p.Glu1562Asp
XM_006721922.1:c.4779A>T	XP_006721985.1:p.Glu1593Asp
XM_006721923.2:c.4740A>T	XP_006721986.1:p.Glu1580Asp
XM_006721924.1:c.4779A>T	XP_006721987.1:p.Glu1593Asp
XM_006721925.1:c.4716A>T	XP_006721988.1:p.Glu1572Asp
XM_006721926.2:c.4779A>T	XP_006721989.1:p.Glu1593Asp
XM_006721927.1:c.4779A>T	XP_006721990.1:p.Glu1593Asp
XM_006721928.2:c.4779A>T	XP_006721991.1:p.Glu1593Asp
XM_011524852.1:c.4776A>T	XP_011523154.1:p.Glu1592Asp
XM_011524853.1:c.4740A>T	XP_011523155.1:p.Glu1580Asp
XM_011524854.1:c.4740A>T	XP_011523156.1:p.Glu1580Asp
XM_011524855.1:c.4740A>T	XP_011523157.1:p.Glu1580Asp
XM_011524856.1:c.4740A>T	XP_011523158.1:p.Glu1580Asp
XM_011524857.1:c.4779A>T	XP_011523159.1:p.Glu1593Asp
NM_001042492.3:c.4749A>T MANE Select	NP_001035957.1:p.Glu1583Asp