Canonical Allele Identifier: CA251446

Gene: NF1

Linked Data

• ClinVar Variation Id: 339
• ClinVar RCV Id: RCV000000367
• dbSNP Id: rs137854551
• MyVariant Identifiers: chr17:g.29664448C>A (hg19) ; chr17:g.31337430C>A (hg38)
• PubMed: PMID:1302608

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31337430C>A , CM000679.2:g.31337430C>A	GRCh38
NC_000017.10:g.29664448C>A , CM000679.1:g.29664448C>A	GRCh37
NC_000017.9:g.26688574C>A	NCBI36
NG_009018.1:g.247454C>A , LRG_214:g.247454C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6472C>A	ENSP00000512431.1:p.Leu2158Met
ENST00000684826.1:c.1054C>A	ENSP00000509994.1:p.Leu352Met
ENST00000684998.1:n.1368C>A
ENST00000687027.1:c.646C>A	ENSP00000508715.1:p.Leu216Met
ENST00000687863.1:n.3135C>A
ENST00000691014.1:c.6520C>A	ENSP00000510595.1:p.Leu2174Met
ENST00000693617.1:c.1054C>A	ENSP00000510031.1:p.Leu352Met
ENST00000358273.9:c.6490C>A MANE Select	ENSP00000351015.4:p.Leu2164Met
ENST00000356175.7:c.6427C>A	ENSP00000348498.3:p.Leu2143Met
ENST00000358273.8:c.6490C>A	ENSP00000351015.4:p.Leu2164Met
ENST00000456735.6:c.5425C>A	ENSP00000389907.2:p.Leu1809Met
ENST00000579081.5:c.6626C>A	ENSP00000462408.1:n.6626C>A
NM_000267.3:c.6427C>A , LRG_214t1:c.6427C>A	NP_000258.1:p.Leu2143Met
NM_001042492.2:c.6490C>A , LRG_214t2:c.6490C>A	NP_001035957.1:p.Leu2164Met
XM_005257983.1:c.6490C>A	XP_005258040.1:p.Leu2164Met
XM_005257984.1:c.6427C>A	XP_005258041.1:p.Leu2143Met
XM_006721922.1:c.6520C>A	XP_006721985.1:p.Leu2174Met
XM_006721923.2:c.6481C>A	XP_006721986.1:p.Leu2161Met
XM_006721924.1:c.6520C>A	XP_006721987.1:p.Leu2174Met
XM_006721925.1:c.6457C>A	XP_006721988.1:p.Leu2153Met
XM_006721926.2:c.6520C>A	XP_006721989.1:p.Leu2174Met
XM_006721927.1:c.6520C>A	XP_006721990.1:p.Leu2174Met
XM_011524852.1:c.6517C>A	XP_011523154.1:p.Leu2173Met
XM_011524853.1:c.6481C>A	XP_011523155.1:p.Leu2161Met
XM_011524854.1:c.6481C>A	XP_011523156.1:p.Leu2161Met
XM_011524855.1:c.6481C>A	XP_011523157.1:p.Leu2161Met
XM_011524856.1:c.6481C>A	XP_011523158.1:p.Leu2161Met
XM_011524857.1:c.6520C>A	XP_011523159.1:p.Leu2174Met
NM_001042492.3:c.6490C>A MANE Select	NP_001035957.1:p.Leu2164Met