Canonical Allele Identifier: CA197005

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31374125C>A , CM000679.2:g.31374125C>A	GRCh38
NC_000017.10:g.29701143C>A , CM000679.1:g.29701143C>A	GRCh37
NC_000017.9:g.26725269C>A	NCBI36
NG_009018.1:g.284149C>A , LRG_214:g.284149C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.8490C>A MANE Select	NP_001035957.1:p.Phe2830Leu
ENST00000358273.9:c.8490C>A MANE Select	ENSP00000351015.4:p.Phe2830Leu
NM_000267.3:c.8427C>A , LRG_214t1:c.8427C>A	NP_000258.1:p.Phe2809Leu
NM_001042492.2:c.8490C>A , LRG_214t2:c.8490C>A	NP_001035957.1:p.Phe2830Leu
ENST00000356175.7:c.8427C>A	ENSP00000348498.3:p.Phe2809Leu
ENST00000358273.8:c.8490C>A	ENSP00000351015.4:p.Phe2830Leu
ENST00000456735.6:c.7479C>A	ENSP00000389907.2:p.Phe2493Leu
ENST00000471572.6:c.1873C>A
ENST00000579081.5:c.8626C>A	ENSP00000462408.1:n.8626C>A
ENST00000684826.1:c.3108C>A	ENSP00000509994.1:p.Phe1036Leu
ENST00000687027.1:c.2646C>A	ENSP00000508715.1:p.Phe882Leu
ENST00000689464.1:c.1594C>A
ENST00000691014.1:c.8520C>A	ENSP00000510595.1:p.Phe2840Leu
ENST00000693617.1:c.3054C>A	ENSP00000510031.1:p.Phe1018Leu
ENST00000696138.1:c.*125C>A	ENSP00000512431.1:n.*125C>A
XM_005257983.1:c.8544C>A	XP_005258040.1:p.Phe2848Leu
XM_005257984.1:c.8481C>A	XP_005258041.1:p.Phe2827Leu
XM_006721922.1:c.8574C>A	XP_006721985.1:p.Phe2858Leu
XM_006721923.2:c.8535C>A	XP_006721986.1:p.Phe2845Leu
XM_006721924.1:c.8520C>A	XP_006721987.1:p.Phe2840Leu
XM_006721925.1:c.8511C>A	XP_006721988.1:p.Phe2837Leu
XM_011524852.1:c.8571C>A	XP_011523154.1:p.Phe2857Leu
XM_011524853.1:c.8535C>A	XP_011523155.1:p.Phe2845Leu
XM_011524854.1:c.8535C>A	XP_011523156.1:p.Phe2845Leu
XM_011524855.1:c.8535C>A	XP_011523157.1:p.Phe2845Leu
XM_011524856.1:c.8535C>A	XP_011523158.1:p.Phe2845Leu
XM_011524857.1:c.8451C>A	XP_011523159.1:p.Phe2817Leu