Canonical Allele Identifier: CA499236866

Gene: NF1

Linked Data

• ClinVar Variation Id: 826852
• ClinVar RCV Id: RCV001501982 ; RCV002400202
• dbSNP Id: rs1172296616
• gnomAD v2: 17-29670149-A-G
• gnomAD v3: 17-31343131-A-G
• gnomAD v4: 17-31343131-A-G
• MyVariant Identifiers: chr17:g.29670149A>G (hg19) ; chr17:g.31343131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343131A>G , CM000679.2:g.31343131A>G	GRCh38
NC_000017.10:g.29670149A>G , CM000679.1:g.29670149A>G	GRCh37
NC_000017.9:g.26694275A>G	NCBI36
NG_009018.1:g.253155A>G , LRG_214:g.253155A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7167A>G	ENSP00000512431.1:p.Leu2389=
ENST00000684826.1:c.1749A>G	ENSP00000509994.1:p.Leu583=
ENST00000687027.1:c.1341A>G	ENSP00000508715.1:p.Leu447=
ENST00000687863.1:n.3830A>G
ENST00000689464.1:c.124A>G
ENST00000691014.1:c.7215A>G	ENSP00000510595.1:p.Leu2405=
ENST00000693617.1:c.1749A>G	ENSP00000510031.1:p.Leu583=
ENST00000358273.9:c.7185A>G MANE Select	ENSP00000351015.4:p.Leu2395=
ENST00000356175.7:c.7122A>G	ENSP00000348498.3:p.Leu2374=
ENST00000358273.8:c.7185A>G	ENSP00000351015.4:p.Leu2395=
ENST00000456735.6:c.6120A>G	ENSP00000389907.2:p.Leu2040=
ENST00000471572.6:c.568A>G
ENST00000579081.5:c.7321A>G	ENSP00000462408.1:n.7321A>G
ENST00000581790.5:c.328A>G
ENST00000582892.1:n.427A>G
NM_000267.3:c.7122A>G , LRG_214t1:c.7122A>G	NP_000258.1:p.Leu2374=
NM_001042492.2:c.7185A>G , LRG_214t2:c.7185A>G	NP_001035957.1:p.Leu2395=
XM_005257983.1:c.7185A>G	XP_005258040.1:p.Leu2395=
XM_005257984.1:c.7122A>G	XP_005258041.1:p.Leu2374=
XM_006721922.1:c.7215A>G	XP_006721985.1:p.Leu2405=
XM_006721923.2:c.7176A>G	XP_006721986.1:p.Leu2392=
XM_006721924.1:c.7215A>G	XP_006721987.1:p.Leu2405=
XM_006721925.1:c.7152A>G	XP_006721988.1:p.Leu2384=
XM_006721926.2:c.7215A>G	XP_006721989.1:p.Leu2405=
XM_006721927.1:c.7215A>G	XP_006721990.1:p.Leu2405=
XM_011524852.1:c.7212A>G	XP_011523154.1:p.Leu2404=
XM_011524853.1:c.7176A>G	XP_011523155.1:p.Leu2392=
XM_011524854.1:c.7176A>G	XP_011523156.1:p.Leu2392=
XM_011524855.1:c.7176A>G	XP_011523157.1:p.Leu2392=
XM_011524856.1:c.7176A>G	XP_011523158.1:p.Leu2392=
XM_011524857.1:c.7215A>G	XP_011523159.1:p.Leu2405=
NM_001042492.3:c.7185A>G MANE Select	NP_001035957.1:p.Leu2395=