Canonical Allele Identifier: CA499206325

Gene: NF1

Linked Data

• ClinVar Variation Id: 431568
• ClinVar RCV Id: RCV000497168 ; RCV002356813
• dbSNP Id: rs1135402794
• gnomAD v4: 17-31181450-G-A
• MyVariant Identifiers: chr17:g.29508468G>A (hg19) ; chr17:g.31181450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31181450G>A , CM000679.2:g.31181450G>A	GRCh38
NC_000017.10:g.29508468G>A , CM000679.1:g.29508468G>A	GRCh37
NC_000017.9:g.26532594G>A	NCBI36
NG_009018.1:g.91474G>A , LRG_214:g.91474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.615G>A	ENSP00000512431.1:p.Lys205=
ENST00000686189.1:c.30G>A	ENSP00000509682.1:p.Lys10=
ENST00000691014.1:c.615G>A	ENSP00000510595.1:p.Lys205=
ENST00000358273.9:c.615G>A MANE Select	ENSP00000351015.4:p.Lys205=
ENST00000490416.2:c.195G>A	ENSP00000491431.1:p.Lys65=
ENST00000356175.7:c.615G>A	ENSP00000348498.3:p.Lys205=
ENST00000358273.8:c.615G>A	ENSP00000351015.4:p.Lys205=
ENST00000431387.8:c.615G>A	ENSP00000412921.4:p.Lys205=
ENST00000487476.5:n.998G>A
ENST00000490416.1:n.249G>A
ENST00000495910.6:c.390G>A
ENST00000579081.5:c.717G>A	ENSP00000462408.1:p.Lys239=
NM_000267.3:c.615G>A , LRG_214t1:c.615G>A	NP_000258.1:p.Lys205=
NM_001042492.2:c.615G>A , LRG_214t2:c.615G>A	NP_001035957.1:p.Lys205=
NM_001128147.2:c.615G>A	NP_001121619.1:p.Lys205=
XM_005257983.1:c.615G>A	XP_005258040.1:p.Lys205=
XM_005257984.1:c.615G>A	XP_005258041.1:p.Lys205=
XM_006721922.1:c.615G>A	XP_006721985.1:p.Lys205=
XM_006721923.2:c.576G>A	XP_006721986.1:p.Lys192=
XM_006721924.1:c.615G>A	XP_006721987.1:p.Lys205=
XM_006721925.1:c.615G>A	XP_006721988.1:p.Lys205=
XM_006721926.2:c.615G>A	XP_006721989.1:p.Lys205=
XM_006721927.1:c.615G>A	XP_006721990.1:p.Lys205=
XM_006721928.2:c.615G>A	XP_006721991.1:p.Lys205=
XM_011524852.1:c.615G>A	XP_011523154.1:p.Lys205=
XM_011524853.1:c.576G>A	XP_011523155.1:p.Lys192=
XM_011524854.1:c.576G>A	XP_011523156.1:p.Lys192=
XM_011524855.1:c.576G>A	XP_011523157.1:p.Lys192=
XM_011524856.1:c.576G>A	XP_011523158.1:p.Lys192=
XM_011524857.1:c.615G>A	XP_011523159.1:p.Lys205=
NM_001042492.3:c.615G>A MANE Select	NP_001035957.1:p.Lys205=
NM_001128147.3:c.615G>A	NP_001121619.1:p.Lys205=