Canonical Allele Identifier: CA338364

Gene: NF1

Linked Data

• ClinVar Variation Id: 216404
• ClinVar RCV Id: RCV000199054 ; RCV000563776 ; RCV001577944
• dbSNP Id: rs751414513
• ExAC: 17:29588833 G / A
• gnomAD v2: 17-29588833-G-A
• gnomAD v4: 17-31261815-G-A
• MyVariant Identifiers: chr17:g.29588833G>A (hg19) ; chr17:g.31261815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261815G>A , CM000679.2:g.31261815G>A	GRCh38
NC_000017.10:g.29588833G>A , CM000679.1:g.29588833G>A	GRCh37
NC_000017.9:g.26612959G>A	NCBI36
NG_009018.1:g.171839G>A , LRG_214:g.171839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.484G>A	ENSP00000492721.2:p.Ala162Thr
ENST00000696138.1:c.4664G>A	ENSP00000512431.1:p.Ser1555Asn
ENST00000696140.1:n.788G>A
ENST00000696141.1:c.673G>A
ENST00000687863.1:n.1327G>A
ENST00000691014.1:c.4712G>A	ENSP00000510595.1:p.Ser1571Asn
ENST00000358273.9:c.4682G>A MANE Select	ENSP00000351015.4:p.Ser1561Asn
ENST00000356175.7:c.4619G>A	ENSP00000348498.3:p.Ser1540Asn
ENST00000358273.8:c.4682G>A	ENSP00000351015.4:p.Ser1561Asn
ENST00000456735.6:c.3617G>A	ENSP00000389907.2:p.Ser1206Asn
ENST00000493220.5:n.3155G>A
ENST00000579081.5:c.4721G>A	ENSP00000462408.1:p.Ser1574Asn
NM_000267.3:c.4619G>A , LRG_214t1:c.4619G>A	NP_000258.1:p.Ser1540Asn
NM_001042492.2:c.4682G>A , LRG_214t2:c.4682G>A	NP_001035957.1:p.Ser1561Asn
XM_005257983.1:c.4682G>A	XP_005258040.1:p.Ser1561Asn
XM_005257984.1:c.4619G>A	XP_005258041.1:p.Ser1540Asn
XM_006721922.1:c.4712G>A	XP_006721985.1:p.Ser1571Asn
XM_006721923.2:c.4673G>A	XP_006721986.1:p.Ser1558Asn
XM_006721924.1:c.4712G>A	XP_006721987.1:p.Ser1571Asn
XM_006721925.1:c.4649G>A	XP_006721988.1:p.Ser1550Asn
XM_006721926.2:c.4712G>A	XP_006721989.1:p.Ser1571Asn
XM_006721927.1:c.4712G>A	XP_006721990.1:p.Ser1571Asn
XM_006721928.2:c.4712G>A	XP_006721991.1:p.Ser1571Asn
XM_011524852.1:c.4709G>A	XP_011523154.1:p.Ser1570Asn
XM_011524853.1:c.4673G>A	XP_011523155.1:p.Ser1558Asn
XM_011524854.1:c.4673G>A	XP_011523156.1:p.Ser1558Asn
XM_011524855.1:c.4673G>A	XP_011523157.1:p.Ser1558Asn
XM_011524856.1:c.4673G>A	XP_011523158.1:p.Ser1558Asn
XM_011524857.1:c.4712G>A	XP_011523159.1:p.Ser1571Asn
NM_001042492.3:c.4682G>A MANE Select	NP_001035957.1:p.Ser1561Asn