Canonical Allele Identifier: CA165152

Gene: NF1

Linked Data

• ClinVar Variation Id: 141341
• ClinVar RCV Id: RCV000129826 ; RCV000476088 ; RCV000765343 ; RCV001549489 ; RCV002345443
• dbSNP Id: rs587781670
• ExAC: 17:29497004 G / A
• gnomAD v2: 17-29497004-G-A
• gnomAD v3: 17-31169986-G-A
• gnomAD v4: 17-31169986-G-A
• COSMIC: COSM3421390 ; COSM3421391
• MyVariant Identifiers: chr17:g.29497004G>A (hg19) ; chr17:g.31169986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31169986G>A , CM000679.2:g.31169986G>A	GRCh38
NC_000017.10:g.29497004G>A , CM000679.1:g.29497004G>A	GRCh37
NC_000017.9:g.26521130G>A	NCBI36
NG_009018.1:g.80010G>A , LRG_214:g.80010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.575G>A	ENSP00000512431.1:p.Arg192Gln
ENST00000691014.1:c.575G>A	ENSP00000510595.1:p.Arg192Gln
ENST00000358273.9:c.575G>A MANE Select	ENSP00000351015.4:p.Arg192Gln
ENST00000490416.2:c.166+6610G>A	ENSP00000491431.1:n.166+6610G>A
ENST00000356175.7:c.575G>A	ENSP00000348498.3:p.Arg192Gln
ENST00000358273.8:c.575G>A	ENSP00000351015.4:p.Arg192Gln
ENST00000431387.8:c.575G>A	ENSP00000412921.4:p.Arg192Gln
ENST00000487476.5:n.958G>A
ENST00000490416.1:n.220+6610G>A
ENST00000495910.6:c.361+6610G>A
ENST00000579081.5:c.677G>A	ENSP00000462408.1:p.Arg226Gln
NM_000267.3:c.575G>A , LRG_214t1:c.575G>A	NP_000258.1:p.Arg192Gln
NM_001042492.2:c.575G>A , LRG_214t2:c.575G>A	NP_001035957.1:p.Arg192Gln
NM_001128147.2:c.575G>A	NP_001121619.1:p.Arg192Gln
XM_005257983.1:c.575G>A	XP_005258040.1:p.Arg192Gln
XM_005257984.1:c.575G>A	XP_005258041.1:p.Arg192Gln
XM_006721922.1:c.575G>A	XP_006721985.1:p.Arg192Gln
XM_006721923.2:c.536G>A	XP_006721986.1:p.Arg179Gln
XM_006721924.1:c.575G>A	XP_006721987.1:p.Arg192Gln
XM_006721925.1:c.575G>A	XP_006721988.1:p.Arg192Gln
XM_006721926.2:c.575G>A	XP_006721989.1:p.Arg192Gln
XM_006721927.1:c.575G>A	XP_006721990.1:p.Arg192Gln
XM_006721928.2:c.575G>A	XP_006721991.1:p.Arg192Gln
XM_011524852.1:c.575G>A	XP_011523154.1:p.Arg192Gln
XM_011524853.1:c.536G>A	XP_011523155.1:p.Arg179Gln
XM_011524854.1:c.536G>A	XP_011523156.1:p.Arg179Gln
XM_011524855.1:c.536G>A	XP_011523157.1:p.Arg179Gln
XM_011524856.1:c.536G>A	XP_011523158.1:p.Arg179Gln
XM_011524857.1:c.575G>A	XP_011523159.1:p.Arg192Gln
NM_001042492.3:c.575G>A MANE Select	NP_001035957.1:p.Arg192Gln
NM_001128147.3:c.575G>A	NP_001121619.1:p.Arg192Gln