Canonical Allele Identifier: CA399001711

Gene: NF1

Linked Data

• ClinVar Variation Id: 503701
• ClinVar RCV Id: RCV000599578 ; RCV000632460 ; RCV003157734
• dbSNP Id: rs1060500331
• MyVariant Identifiers: chr17:g.29541604G>A (hg19) ; chr17:g.31214586G>A (hg38)
• PubMed: PMID:10451518

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31214586G>A , CM000679.2:g.31214586G>A	GRCh38
NC_000017.10:g.29541604G>A , CM000679.1:g.29541604G>A	GRCh37
NC_000017.9:g.26565730G>A	NCBI36
NG_009018.1:g.124610G>A , LRG_214:g.124610G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1572+1G>A	ENSP00000512431.1:n.1572+1G>A
ENST00000686189.1:c.972+1G>A	ENSP00000509682.1:n.972+1G>A
ENST00000691014.1:c.1557+1G>A	ENSP00000510595.1:n.1557+1G>A
ENST00000358273.9:c.1527+1G>A MANE Select	ENSP00000351015.4:n.1527+1G>A
ENST00000356175.7:c.1527+1G>A	ENSP00000348498.3:n.1527+1G>A
ENST00000358273.8:c.1527+1G>A	ENSP00000351015.4:n.1527+1G>A
ENST00000431387.8:c.1527+1G>A	ENSP00000412921.4:n.1527+1G>A
ENST00000456735.6:c.525+1G>A	ENSP00000389907.2:n.525+1G>A
ENST00000487476.5:n.1910+1G>A
ENST00000495910.6:c.1302+1G>A
ENST00000579081.5:c.1629+1G>A	ENSP00000462408.1:n.1629+1G>A
NM_000267.3:c.1527+1G>A , LRG_214t1:c.1527+1G>A	NP_000258.1:n.1527+1G>A
NM_001042492.2:c.1527+1G>A , LRG_214t2:c.1527+1G>A	NP_001035957.1:n.1527+1G>A
NM_001128147.2:c.1527+1G>A	NP_001121619.1:n.1527+1G>A
XM_005257983.1:c.1527+1G>A	XP_005258040.1:n.1527+1G>A
XM_005257984.1:c.1527+1G>A	XP_005258041.1:n.1527+1G>A
XM_006721922.1:c.1557+1G>A	XP_006721985.1:n.1557+1G>A
XM_006721923.2:c.1518+1G>A	XP_006721986.1:n.1518+1G>A
XM_006721924.1:c.1557+1G>A	XP_006721987.1:n.1557+1G>A
XM_006721925.1:c.1557+1G>A	XP_006721988.1:n.1557+1G>A
XM_006721926.2:c.1557+1G>A	XP_006721989.1:n.1557+1G>A
XM_006721927.1:c.1557+1G>A	XP_006721990.1:n.1557+1G>A
XM_006721928.2:c.1557+1G>A	XP_006721991.1:n.1557+1G>A
XM_011524852.1:c.1557+1G>A	XP_011523154.1:n.1557+1G>A
XM_011524853.1:c.1518+1G>A	XP_011523155.1:n.1518+1G>A
XM_011524854.1:c.1518+1G>A	XP_011523156.1:n.1518+1G>A
XM_011524855.1:c.1518+1G>A	XP_011523157.1:n.1518+1G>A
XM_011524856.1:c.1518+1G>A	XP_011523158.1:n.1518+1G>A
XM_011524857.1:c.1557+1G>A	XP_011523159.1:n.1557+1G>A
NM_001042492.3:c.1527+1G>A MANE Select	NP_001035957.1:n.1527+1G>A
NM_001128147.3:c.1527+1G>A	NP_001121619.1:n.1527+1G>A