Canonical Allele Identifier: CA399000341

Gene: NF1

Linked Data

• ClinVar Variation Id: 457708
• ClinVar RCV Id: RCV000555162
• dbSNP Id: rs1555619025
• MyVariant Identifiers: chr17:g.29588796C>G (hg19) ; chr17:g.31261778C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261778C>G , CM000679.2:g.31261778C>G	GRCh38
NC_000017.10:g.29588796C>G , CM000679.1:g.29588796C>G	GRCh37
NC_000017.9:g.26612922C>G	NCBI36
NG_009018.1:g.171802C>G , LRG_214:g.171802C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.447C>G	ENSP00000492721.2:p.Leu149=
ENST00000696138.1:c.4627C>G	ENSP00000512431.1:p.Pro1543Ala
ENST00000696140.1:n.751C>G
ENST00000696141.1:c.636C>G
ENST00000687863.1:n.1290C>G
ENST00000691014.1:c.4675C>G	ENSP00000510595.1:p.Pro1559Ala
ENST00000358273.9:c.4645C>G MANE Select	ENSP00000351015.4:p.Pro1549Ala
ENST00000356175.7:c.4582C>G	ENSP00000348498.3:p.Pro1528Ala
ENST00000358273.8:c.4645C>G	ENSP00000351015.4:p.Pro1549Ala
ENST00000456735.6:c.3580C>G	ENSP00000389907.2:p.Pro1194Ala
ENST00000466819.5:c.1161C>G
ENST00000479614.1:c.1098C>G
ENST00000493220.5:n.3118C>G
ENST00000579081.5:c.4684C>G	ENSP00000462408.1:p.Pro1562Ala
NM_000267.3:c.4582C>G , LRG_214t1:c.4582C>G	NP_000258.1:p.Pro1528Ala
NM_001042492.2:c.4645C>G , LRG_214t2:c.4645C>G	NP_001035957.1:p.Pro1549Ala
XM_005257983.1:c.4645C>G	XP_005258040.1:p.Pro1549Ala
XM_005257984.1:c.4582C>G	XP_005258041.1:p.Pro1528Ala
XM_006721922.1:c.4675C>G	XP_006721985.1:p.Pro1559Ala
XM_006721923.2:c.4636C>G	XP_006721986.1:p.Pro1546Ala
XM_006721924.1:c.4675C>G	XP_006721987.1:p.Pro1559Ala
XM_006721925.1:c.4612C>G	XP_006721988.1:p.Pro1538Ala
XM_006721926.2:c.4675C>G	XP_006721989.1:p.Pro1559Ala
XM_006721927.1:c.4675C>G	XP_006721990.1:p.Pro1559Ala
XM_006721928.2:c.4675C>G	XP_006721991.1:p.Pro1559Ala
XM_011524852.1:c.4672C>G	XP_011523154.1:p.Pro1558Ala
XM_011524853.1:c.4636C>G	XP_011523155.1:p.Pro1546Ala
XM_011524854.1:c.4636C>G	XP_011523156.1:p.Pro1546Ala
XM_011524855.1:c.4636C>G	XP_011523157.1:p.Pro1546Ala
XM_011524856.1:c.4636C>G	XP_011523158.1:p.Pro1546Ala
XM_011524857.1:c.4675C>G	XP_011523159.1:p.Pro1559Ala
NM_001042492.3:c.4645C>G MANE Select	NP_001035957.1:p.Pro1549Ala