Canonical Allele Identifier: CA16607560

Gene: NF1

Linked Data

• ClinVar Variation Id: 388705
• ClinVar RCV Id: RCV002411380 ; RCV002522463
• dbSNP Id: rs1057523206
• MyVariant Identifiers: chr17:g.29550468A>G (hg19) ; chr17:g.31223450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31223450A>G , CM000679.2:g.31223450A>G	GRCh38
NC_000017.10:g.29550468A>G , CM000679.1:g.29550468A>G	GRCh37
NC_000017.9:g.26574594A>G	NCBI36
NG_009018.1:g.133474A>G , LRG_214:g.133474A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.1773A>G	ENSP00000512431.1:p.Gln591=
ENST00000691014.1:c.1758A>G	ENSP00000510595.1:p.Gln586=
ENST00000358273.9:c.1728A>G MANE Select	ENSP00000351015.4:p.Gln576=
ENST00000356175.7:c.1728A>G	ENSP00000348498.3:p.Gln576=
ENST00000358273.8:c.1728A>G	ENSP00000351015.4:p.Gln576=
ENST00000456735.6:c.726A>G	ENSP00000389907.2:p.Gln242=
ENST00000495910.6:c.1503A>G
ENST00000579081.5:c.1830A>G	ENSP00000462408.1:p.Gln610=
NM_000267.3:c.1728A>G , LRG_214t1:c.1728A>G	NP_000258.1:p.Gln576=
NM_001042492.2:c.1728A>G , LRG_214t2:c.1728A>G	NP_001035957.1:p.Gln576=
XM_005257983.1:c.1728A>G	XP_005258040.1:p.Gln576=
XM_005257984.1:c.1728A>G	XP_005258041.1:p.Gln576=
XM_006721922.1:c.1758A>G	XP_006721985.1:p.Gln586=
XM_006721923.2:c.1719A>G	XP_006721986.1:p.Gln573=
XM_006721924.1:c.1758A>G	XP_006721987.1:p.Gln586=
XM_006721925.1:c.1758A>G	XP_006721988.1:p.Gln586=
XM_006721926.2:c.1758A>G	XP_006721989.1:p.Gln586=
XM_006721927.1:c.1758A>G	XP_006721990.1:p.Gln586=
XM_006721928.2:c.1758A>G	XP_006721991.1:p.Gln586=
XM_011524852.1:c.1758A>G	XP_011523154.1:p.Gln586=
XM_011524853.1:c.1719A>G	XP_011523155.1:p.Gln573=
XM_011524854.1:c.1719A>G	XP_011523156.1:p.Gln573=
XM_011524855.1:c.1719A>G	XP_011523157.1:p.Gln573=
XM_011524856.1:c.1719A>G	XP_011523158.1:p.Gln573=
XM_011524857.1:c.1758A>G	XP_011523159.1:p.Gln586=
NM_001042492.3:c.1728A>G MANE Select	NP_001035957.1:p.Gln576=