Canonical Allele Identifier: CA399000091

Gene: NF1

Linked Data

• ClinVar Variation Id: 2452244
• ClinVar RCV Id: RCV003172338 ; RCV003495320
• dbSNP Id: rs1269451510
• gnomAD v3: 17-31261713-A-T
• gnomAD v4: 17-31261713-A-T
• MyVariant Identifiers: chr17:g.29588731A>T (hg19) ; chr17:g.31261713A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261713A>T , CM000679.2:g.31261713A>T	GRCh38
NC_000017.10:g.29588731A>T , CM000679.1:g.29588731A>T	GRCh37
NC_000017.9:g.26612857A>T	NCBI36
NG_009018.1:g.171737A>T , LRG_214:g.171737A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.382A>T	ENSP00000492721.2:p.Ile128Phe
ENST00000696138.1:c.4562A>T	ENSP00000512431.1:p.Asp1521Val
ENST00000696140.1:n.686A>T
ENST00000696141.1:c.571A>T
ENST00000687863.1:n.1225A>T
ENST00000691014.1:c.4610A>T	ENSP00000510595.1:p.Asp1537Val
ENST00000358273.9:c.4580A>T MANE Select	ENSP00000351015.4:p.Asp1527Val
ENST00000356175.7:c.4517A>T	ENSP00000348498.3:p.Asp1506Val
ENST00000358273.8:c.4580A>T	ENSP00000351015.4:p.Asp1527Val
ENST00000456735.6:c.3515A>T	ENSP00000389907.2:p.Asp1172Val
ENST00000466819.5:c.1096A>T
ENST00000479614.1:c.1033A>T
ENST00000493220.5:n.3053A>T
ENST00000579081.5:c.4619A>T	ENSP00000462408.1:p.Asp1540Val
NM_000267.3:c.4517A>T , LRG_214t1:c.4517A>T	NP_000258.1:p.Asp1506Val
NM_001042492.2:c.4580A>T , LRG_214t2:c.4580A>T	NP_001035957.1:p.Asp1527Val
XM_005257983.1:c.4580A>T	XP_005258040.1:p.Asp1527Val
XM_005257984.1:c.4517A>T	XP_005258041.1:p.Asp1506Val
XM_006721922.1:c.4610A>T	XP_006721985.1:p.Asp1537Val
XM_006721923.2:c.4571A>T	XP_006721986.1:p.Asp1524Val
XM_006721924.1:c.4610A>T	XP_006721987.1:p.Asp1537Val
XM_006721925.1:c.4547A>T	XP_006721988.1:p.Asp1516Val
XM_006721926.2:c.4610A>T	XP_006721989.1:p.Asp1537Val
XM_006721927.1:c.4610A>T	XP_006721990.1:p.Asp1537Val
XM_006721928.2:c.4610A>T	XP_006721991.1:p.Asp1537Val
XM_011524852.1:c.4607A>T	XP_011523154.1:p.Asp1536Val
XM_011524853.1:c.4571A>T	XP_011523155.1:p.Asp1524Val
XM_011524854.1:c.4571A>T	XP_011523156.1:p.Asp1524Val
XM_011524855.1:c.4571A>T	XP_011523157.1:p.Asp1524Val
XM_011524856.1:c.4571A>T	XP_011523158.1:p.Asp1524Val
XM_011524857.1:c.4610A>T	XP_011523159.1:p.Asp1537Val
NM_001042492.3:c.4580A>T MANE Select	NP_001035957.1:p.Asp1527Val