Canonical Allele Identifier: CA289353613

Gene: NF1

Linked Data

• ClinVar Variation Id: 484135
• ClinVar RCV Id: RCV002317295
• dbSNP Id: rs867955218
• gnomAD v3: 17-31261734-G-A
• gnomAD v4: 17-31261734-G-A
• MyVariant Identifiers: chr17:g.29588752G>A (hg19) ; chr17:g.31261734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261734G>A , CM000679.2:g.31261734G>A	GRCh38
NC_000017.10:g.29588752G>A , CM000679.1:g.29588752G>A	GRCh37
NC_000017.9:g.26612878G>A	NCBI36
NG_009018.1:g.171758G>A , LRG_214:g.171758G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.403G>A	ENSP00000492721.2:p.Asp135Asn
ENST00000696138.1:c.4583G>A	ENSP00000512431.1:p.Arg1528Gln
ENST00000696140.1:n.707G>A
ENST00000696141.1:c.592G>A
ENST00000687863.1:n.1246G>A
ENST00000691014.1:c.4631G>A	ENSP00000510595.1:p.Arg1544Gln
ENST00000358273.9:c.4601G>A MANE Select	ENSP00000351015.4:p.Arg1534Gln
ENST00000356175.7:c.4538G>A	ENSP00000348498.3:p.Arg1513Gln
ENST00000358273.8:c.4601G>A	ENSP00000351015.4:p.Arg1534Gln
ENST00000456735.6:c.3536G>A	ENSP00000389907.2:p.Arg1179Gln
ENST00000466819.5:c.1117G>A
ENST00000479614.1:c.1054G>A
ENST00000493220.5:n.3074G>A
ENST00000579081.5:c.4640G>A	ENSP00000462408.1:p.Arg1547Gln
NM_000267.3:c.4538G>A , LRG_214t1:c.4538G>A	NP_000258.1:p.Arg1513Gln
NM_001042492.2:c.4601G>A , LRG_214t2:c.4601G>A	NP_001035957.1:p.Arg1534Gln
XM_005257983.1:c.4601G>A	XP_005258040.1:p.Arg1534Gln
XM_005257984.1:c.4538G>A	XP_005258041.1:p.Arg1513Gln
XM_006721922.1:c.4631G>A	XP_006721985.1:p.Arg1544Gln
XM_006721923.2:c.4592G>A	XP_006721986.1:p.Arg1531Gln
XM_006721924.1:c.4631G>A	XP_006721987.1:p.Arg1544Gln
XM_006721925.1:c.4568G>A	XP_006721988.1:p.Arg1523Gln
XM_006721926.2:c.4631G>A	XP_006721989.1:p.Arg1544Gln
XM_006721927.1:c.4631G>A	XP_006721990.1:p.Arg1544Gln
XM_006721928.2:c.4631G>A	XP_006721991.1:p.Arg1544Gln
XM_011524852.1:c.4628G>A	XP_011523154.1:p.Arg1543Gln
XM_011524853.1:c.4592G>A	XP_011523155.1:p.Arg1531Gln
XM_011524854.1:c.4592G>A	XP_011523156.1:p.Arg1531Gln
XM_011524855.1:c.4592G>A	XP_011523157.1:p.Arg1531Gln
XM_011524856.1:c.4592G>A	XP_011523158.1:p.Arg1531Gln
XM_011524857.1:c.4631G>A	XP_011523159.1:p.Arg1544Gln
NM_001042492.3:c.4601G>A MANE Select	NP_001035957.1:p.Arg1534Gln