Canonical Allele Identifier: CA499234146

Gene: NF1

Linked Data

• ClinVar Variation Id: 481970
• ClinVar RCV Id: RCV002316660 ; RCV003495154
• dbSNP Id: rs1346039502
• gnomAD v3: 17-31265280-T-A
• gnomAD v4: 17-31265280-T-A
• MyVariant Identifiers: chr17:g.29592298T>A (hg19) ; chr17:g.31265280T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265280T>A , CM000679.2:g.31265280T>A	GRCh38
NC_000017.10:g.29592298T>A , CM000679.1:g.29592298T>A	GRCh37
NC_000017.9:g.26616424T>A	NCBI36
NG_009018.1:g.175304T>A , LRG_214:g.175304T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.578T>A	ENSP00000492721.2:n.578T>A
ENST00000696138.1:c.4758T>A	ENSP00000512431.1:p.Ile1586=
ENST00000696140.1:n.882T>A
ENST00000696141.1:c.767T>A
ENST00000687863.1:n.1421T>A
ENST00000691014.1:c.4806T>A	ENSP00000510595.1:p.Ile1602=
ENST00000358273.9:c.4776T>A MANE Select	ENSP00000351015.4:p.Ile1592=
ENST00000356175.7:c.4713T>A	ENSP00000348498.3:p.Ile1571=
ENST00000358273.8:c.4776T>A	ENSP00000351015.4:p.Ile1592=
ENST00000456735.6:c.3711T>A	ENSP00000389907.2:p.Ile1237=
ENST00000493220.5:n.3249T>A
ENST00000579081.5:c.4815T>A	ENSP00000462408.1:p.Ile1605=
NM_000267.3:c.4713T>A , LRG_214t1:c.4713T>A	NP_000258.1:p.Ile1571=
NM_001042492.2:c.4776T>A , LRG_214t2:c.4776T>A	NP_001035957.1:p.Ile1592=
XM_005257983.1:c.4776T>A	XP_005258040.1:p.Ile1592=
XM_005257984.1:c.4713T>A	XP_005258041.1:p.Ile1571=
XM_006721922.1:c.4806T>A	XP_006721985.1:p.Ile1602=
XM_006721923.2:c.4767T>A	XP_006721986.1:p.Ile1589=
XM_006721924.1:c.4806T>A	XP_006721987.1:p.Ile1602=
XM_006721925.1:c.4743T>A	XP_006721988.1:p.Ile1581=
XM_006721926.2:c.4806T>A	XP_006721989.1:p.Ile1602=
XM_006721927.1:c.4806T>A	XP_006721990.1:p.Ile1602=
XM_006721928.2:c.4806T>A	XP_006721991.1:p.Ile1602=
XM_011524852.1:c.4803T>A	XP_011523154.1:p.Ile1601=
XM_011524853.1:c.4767T>A	XP_011523155.1:p.Ile1589=
XM_011524854.1:c.4767T>A	XP_011523156.1:p.Ile1589=
XM_011524855.1:c.4767T>A	XP_011523157.1:p.Ile1589=
XM_011524856.1:c.4767T>A	XP_011523158.1:p.Ile1589=
XM_011524857.1:c.4806T>A	XP_011523159.1:p.Ile1602=
NM_001042492.3:c.4776T>A MANE Select	NP_001035957.1:p.Ile1592=