Canonical Allele Identifier: CA8486473

Gene: NF1

Linked Data

• ClinVar Variation Id: 230351
• ClinVar RCV Id: RCV000913634 ; RCV004547531 ; RCV000218364
• dbSNP Id: rs376659579
• ExAC: 17:29592289 G / A
• gnomAD v2: 17-29592289-G-A
• gnomAD v3: 17-31265271-G-A
• gnomAD v4: 17-31265271-G-A
• MyVariant Identifiers: chr17:g.29592289G>A (hg19) ; chr17:g.31265271G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265271G>A , CM000679.2:g.31265271G>A	GRCh38
NC_000017.10:g.29592289G>A , CM000679.1:g.29592289G>A	GRCh37
NC_000017.9:g.26616415G>A	NCBI36
NG_009018.1:g.175295G>A , LRG_214:g.175295G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.569G>A	ENSP00000492721.2:n.569G>A
ENST00000696138.1:c.4749G>A	ENSP00000512431.1:p.Thr1583=
ENST00000696140.1:n.873G>A
ENST00000696141.1:c.758G>A
ENST00000687863.1:n.1412G>A
ENST00000691014.1:c.4797G>A	ENSP00000510595.1:p.Thr1599=
ENST00000358273.9:c.4767G>A MANE Select	ENSP00000351015.4:p.Thr1589=
ENST00000356175.7:c.4704G>A	ENSP00000348498.3:p.Thr1568=
ENST00000358273.8:c.4767G>A	ENSP00000351015.4:p.Thr1589=
ENST00000456735.6:c.3702G>A	ENSP00000389907.2:p.Thr1234=
ENST00000493220.5:n.3240G>A
ENST00000579081.5:c.4806G>A	ENSP00000462408.1:p.Thr1602=
NM_000267.3:c.4704G>A , LRG_214t1:c.4704G>A	NP_000258.1:p.Thr1568=
NM_001042492.2:c.4767G>A , LRG_214t2:c.4767G>A	NP_001035957.1:p.Thr1589=
XM_005257983.1:c.4767G>A	XP_005258040.1:p.Thr1589=
XM_005257984.1:c.4704G>A	XP_005258041.1:p.Thr1568=
XM_006721922.1:c.4797G>A	XP_006721985.1:p.Thr1599=
XM_006721923.2:c.4758G>A	XP_006721986.1:p.Thr1586=
XM_006721924.1:c.4797G>A	XP_006721987.1:p.Thr1599=
XM_006721925.1:c.4734G>A	XP_006721988.1:p.Thr1578=
XM_006721926.2:c.4797G>A	XP_006721989.1:p.Thr1599=
XM_006721927.1:c.4797G>A	XP_006721990.1:p.Thr1599=
XM_006721928.2:c.4797G>A	XP_006721991.1:p.Thr1599=
XM_011524852.1:c.4794G>A	XP_011523154.1:p.Thr1598=
XM_011524853.1:c.4758G>A	XP_011523155.1:p.Thr1586=
XM_011524854.1:c.4758G>A	XP_011523156.1:p.Thr1586=
XM_011524855.1:c.4758G>A	XP_011523157.1:p.Thr1586=
XM_011524856.1:c.4758G>A	XP_011523158.1:p.Thr1586=
XM_011524857.1:c.4797G>A	XP_011523159.1:p.Thr1599=
NM_001042492.3:c.4767G>A MANE Select	NP_001035957.1:p.Thr1589=