Canonical Allele Identifier: CA16043521

Gene: NF1

Linked Data

• ClinVar Variation Id: 374108
• ClinVar RCV Id: RCV000414938 ; RCV000457496 ; RCV000492226 ; RCV000626641 ; RCV000992429
• dbSNP Id: rs1057518904
• MyVariant Identifiers: chr17:g.29548950A>G (hg19) ; chr17:g.31221932A>G (hg38)
• PubMed: PMID:7981679 ; PMID:10607834 ; PMID:10712197 ; PMID:16380919 ; PMID:16944272 ; PMID:18546366 ; PMID:23404336

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31221932A>G , CM000679.2:g.31221932A>G	GRCh38
NC_000017.10:g.29548950A>G , CM000679.1:g.29548950A>G	GRCh37
NC_000017.9:g.26573076A>G	NCBI36
NG_009018.1:g.131956A>G , LRG_214:g.131956A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.1766+3A>G	ENSP00000512431.1:n.1766+3A>G
ENST00000686189.1:c.1169A>G	ENSP00000509682.1:p.Tyr390Cys
ENST00000691014.1:c.1751+3A>G	ENSP00000510595.1:n.1751+3A>G
ENST00000358273.9:c.1721+3A>G MANE Select	ENSP00000351015.4:n.1721+3A>G
ENST00000356175.7:c.1721+3A>G	ENSP00000348498.3:n.1721+3A>G
ENST00000358273.8:c.1721+3A>G	ENSP00000351015.4:n.1721+3A>G
ENST00000431387.8:c.1724A>G	ENSP00000412921.4:p.Tyr575Cys
ENST00000456735.6:c.719+3A>G	ENSP00000389907.2:n.719+3A>G
ENST00000495910.6:c.1496+3A>G
ENST00000579081.5:c.1823+3A>G	ENSP00000462408.1:n.1823+3A>G
NM_000267.3:c.1721+3A>G , LRG_214t1:c.1721+3A>G	NP_000258.1:n.1721+3A>G
NM_001042492.2:c.1721+3A>G , LRG_214t2:c.1721+3A>G	NP_001035957.1:n.1721+3A>G
NM_001128147.2:c.1724A>G	NP_001121619.1:p.Tyr575Cys
XM_005257983.1:c.1721+3A>G	XP_005258040.1:n.1721+3A>G
XM_005257984.1:c.1721+3A>G	XP_005258041.1:n.1721+3A>G
XM_006721922.1:c.1751+3A>G	XP_006721985.1:n.1751+3A>G
XM_006721923.2:c.1712+3A>G	XP_006721986.1:n.1712+3A>G
XM_006721924.1:c.1751+3A>G	XP_006721987.1:n.1751+3A>G
XM_006721925.1:c.1751+3A>G	XP_006721988.1:n.1751+3A>G
XM_006721926.2:c.1751+3A>G	XP_006721989.1:n.1751+3A>G
XM_006721927.1:c.1751+3A>G	XP_006721990.1:n.1751+3A>G
XM_006721928.2:c.1751+3A>G	XP_006721991.1:n.1751+3A>G
XM_011524852.1:c.1751+3A>G	XP_011523154.1:n.1751+3A>G
XM_011524853.1:c.1712+3A>G	XP_011523155.1:n.1712+3A>G
XM_011524854.1:c.1712+3A>G	XP_011523156.1:n.1712+3A>G
XM_011524855.1:c.1712+3A>G	XP_011523157.1:n.1712+3A>G
XM_011524856.1:c.1712+3A>G	XP_011523158.1:n.1712+3A>G
XM_011524857.1:c.1751+3A>G	XP_011523159.1:n.1751+3A>G
NM_001042492.3:c.1721+3A>G MANE Select	NP_001035957.1:n.1721+3A>G
NM_001128147.3:c.1724A>G	NP_001121619.1:p.Tyr575Cys