Canonical Allele Identifier: CA8487784

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31360622C>G , CM000679.2:g.31360622C>G	GRCh38
NC_000017.10:g.29687640C>G , CM000679.1:g.29687640C>G	GRCh37
NC_000017.9:g.26711766C>G	NCBI36
NG_009018.1:g.270646C>G , LRG_214:g.270646C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.8296C>G MANE Select	NP_001035957.1:p.Leu2766Val
ENST00000358273.9:c.8296C>G MANE Select	ENSP00000351015.4:p.Leu2766Val
NM_000267.3:c.8233C>G , LRG_214t1:c.8233C>G	NP_000258.1:p.Leu2745Val
NM_001042492.2:c.8296C>G , LRG_214t2:c.8296C>G	NP_001035957.1:p.Leu2766Val
ENST00000356175.7:c.8233C>G	ENSP00000348498.3:p.Leu2745Val
ENST00000358273.8:c.8296C>G	ENSP00000351015.4:p.Leu2766Val
ENST00000456735.6:c.7231C>G	ENSP00000389907.2:p.Leu2411Val
ENST00000468273.1:c.258C>G
ENST00000471572.6:c.1679C>G
ENST00000577967.1:n.4819C>G
ENST00000579081.5:c.8432C>G	ENSP00000462408.1:n.8432C>G
ENST00000684826.1:c.2860C>G	ENSP00000509994.1:p.Leu954Val
ENST00000687027.1:c.2452C>G	ENSP00000508715.1:p.Leu818Val
ENST00000689464.1:c.1346C>G
ENST00000691014.1:c.8326C>G	ENSP00000510595.1:p.Leu2776Val
ENST00000693617.1:c.2860C>G	ENSP00000510031.1:p.Leu954Val
ENST00000696138.1:c.8278C>G	ENSP00000512431.1:p.Leu2760Val
XM_005257983.1:c.8296C>G	XP_005258040.1:p.Leu2766Val
XM_005257984.1:c.8233C>G	XP_005258041.1:p.Leu2745Val
XM_006721922.1:c.8326C>G	XP_006721985.1:p.Leu2776Val
XM_006721923.2:c.8287C>G	XP_006721986.1:p.Leu2763Val
XM_006721924.1:c.8326C>G	XP_006721987.1:p.Leu2776Val
XM_006721925.1:c.8263C>G	XP_006721988.1:p.Leu2755Val
XM_006721926.2:c.8326C>G	XP_006721989.1:p.Leu2776Val
XM_006721927.1:c.8326C>G	XP_006721990.1:p.Leu2776Val
XM_011524852.1:c.8323C>G	XP_011523154.1:p.Leu2775Val
XM_011524853.1:c.8287C>G	XP_011523155.1:p.Leu2763Val
XM_011524854.1:c.8287C>G	XP_011523156.1:p.Leu2763Val
XM_011524855.1:c.8287C>G	XP_011523157.1:p.Leu2763Val
XM_011524856.1:c.8287C>G	XP_011523158.1:p.Leu2763Val
XM_011524857.1:c.8203C>G	XP_011523159.1:p.Leu2735Val