Canonical Allele Identifier: CA399013125

Gene: NF1

Linked Data

• dbSNP Id: rs137854551
• MyVariant Identifiers: chr17:g.29664448C>G (hg19) ; chr17:g.31337430C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6472C>G	ENSP00000512431.1:p.Leu2158Val
ENST00000684826.1:c.1054C>G	ENSP00000509994.1:p.Leu352Val
ENST00000684998.1:n.1368C>G
ENST00000687027.1:c.646C>G	ENSP00000508715.1:p.Leu216Val
ENST00000687863.1:n.3135C>G
ENST00000691014.1:c.6520C>G	ENSP00000510595.1:p.Leu2174Val
ENST00000693617.1:c.1054C>G	ENSP00000510031.1:p.Leu352Val
ENST00000358273.9:c.6490C>G MANE Select	ENSP00000351015.4:p.Leu2164Val
ENST00000356175.7:c.6427C>G	ENSP00000348498.3:p.Leu2143Val
ENST00000358273.8:c.6490C>G	ENSP00000351015.4:p.Leu2164Val
ENST00000456735.6:c.5425C>G	ENSP00000389907.2:p.Leu1809Val
ENST00000579081.5:c.6626C>G	ENSP00000462408.1:n.6626C>G
NM_000267.3:c.6427C>G , LRG_214t1:c.6427C>G	NP_000258.1:p.Leu2143Val
NM_001042492.2:c.6490C>G , LRG_214t2:c.6490C>G	NP_001035957.1:p.Leu2164Val
XM_005257983.1:c.6490C>G	XP_005258040.1:p.Leu2164Val
XM_005257984.1:c.6427C>G	XP_005258041.1:p.Leu2143Val
XM_006721922.1:c.6520C>G	XP_006721985.1:p.Leu2174Val
XM_006721923.2:c.6481C>G	XP_006721986.1:p.Leu2161Val
XM_006721924.1:c.6520C>G	XP_006721987.1:p.Leu2174Val
XM_006721925.1:c.6457C>G	XP_006721988.1:p.Leu2153Val
XM_006721926.2:c.6520C>G	XP_006721989.1:p.Leu2174Val
XM_006721927.1:c.6520C>G	XP_006721990.1:p.Leu2174Val
XM_011524852.1:c.6517C>G	XP_011523154.1:p.Leu2173Val
XM_011524853.1:c.6481C>G	XP_011523155.1:p.Leu2161Val
XM_011524854.1:c.6481C>G	XP_011523156.1:p.Leu2161Val
XM_011524855.1:c.6481C>G	XP_011523157.1:p.Leu2161Val
XM_011524856.1:c.6481C>G	XP_011523158.1:p.Leu2161Val
XM_011524857.1:c.6520C>G	XP_011523159.1:p.Leu2174Val
NM_001042492.3:c.6490C>G MANE Select	NP_001035957.1:p.Leu2164Val