Canonical Allele Identifier: CA10580422

Gene: NF1

Linked Data

• ClinVar Variation Id: 233280
• ClinVar RCV Id: RCV000215696 ; RCV001854688
• dbSNP Id: rs150657839
• gnomAD v4: 17-31357025-A-G
• MyVariant Identifiers: chr17:g.29684043A>G (hg19) ; chr17:g.31357025A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357025A>G , CM000679.2:g.31357025A>G	GRCh38
NC_000017.10:g.29684043A>G , CM000679.1:g.29684043A>G	GRCh37
NC_000017.9:g.26708169A>G	NCBI36
NG_009018.1:g.267049A>G , LRG_214:g.267049A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7786A>G	ENSP00000512431.1:p.Asn2596Asp
ENST00000684826.1:c.2368A>G	ENSP00000509994.1:p.Asn790Asp
ENST00000687027.1:c.1960A>G	ENSP00000508715.1:p.Asn654Asp
ENST00000687863.1:n.4449A>G
ENST00000689464.1:c.854A>G
ENST00000691014.1:c.7834A>G	ENSP00000510595.1:p.Asn2612Asp
ENST00000693617.1:c.2368A>G	ENSP00000510031.1:p.Asn790Asp
ENST00000358273.9:c.7804A>G MANE Select	ENSP00000351015.4:p.Asn2602Asp
ENST00000356175.7:c.7741A>G	ENSP00000348498.3:p.Asn2581Asp
ENST00000358273.8:c.7804A>G	ENSP00000351015.4:p.Asn2602Asp
ENST00000456735.6:c.6739A>G	ENSP00000389907.2:p.Asn2247Asp
ENST00000471572.6:c.1187A>G
ENST00000577967.1:n.1222A>G
ENST00000579081.5:c.7940A>G	ENSP00000462408.1:n.7940A>G
ENST00000581790.5:c.789A>G
NM_000267.3:c.7741A>G , LRG_214t1:c.7741A>G	NP_000258.1:p.Asn2581Asp
NM_001042492.2:c.7804A>G , LRG_214t2:c.7804A>G	NP_001035957.1:p.Asn2602Asp
XM_005257983.1:c.7804A>G	XP_005258040.1:p.Asn2602Asp
XM_005257984.1:c.7741A>G	XP_005258041.1:p.Asn2581Asp
XM_006721922.1:c.7834A>G	XP_006721985.1:p.Asn2612Asp
XM_006721923.2:c.7795A>G	XP_006721986.1:p.Asn2599Asp
XM_006721924.1:c.7834A>G	XP_006721987.1:p.Asn2612Asp
XM_006721925.1:c.7771A>G	XP_006721988.1:p.Asn2591Asp
XM_006721926.2:c.7834A>G	XP_006721989.1:p.Asn2612Asp
XM_006721927.1:c.7834A>G	XP_006721990.1:p.Asn2612Asp
XM_011524852.1:c.7831A>G	XP_011523154.1:p.Asn2611Asp
XM_011524853.1:c.7795A>G	XP_011523155.1:p.Asn2599Asp
XM_011524854.1:c.7795A>G	XP_011523156.1:p.Asn2599Asp
XM_011524855.1:c.7795A>G	XP_011523157.1:p.Asn2599Asp
XM_011524856.1:c.7795A>G	XP_011523158.1:p.Asn2599Asp
XM_011524857.1:c.7711A>G	XP_011523159.1:p.Asn2571Asp
NM_001042492.3:c.7804A>G MANE Select	NP_001035957.1:p.Asn2602Asp