Canonical Allele Identifier: CA399018494

Gene: NF1

Linked Data

• dbSNP Id: rs2151582333
• MyVariant Identifiers: chr17:g.29684037G>A (hg19) ; chr17:g.31357019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357019G>A , CM000679.2:g.31357019G>A	GRCh38
NC_000017.10:g.29684037G>A , CM000679.1:g.29684037G>A	GRCh37
NC_000017.9:g.26708163G>A	NCBI36
NG_009018.1:g.267043G>A , LRG_214:g.267043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7780G>A	ENSP00000512431.1:p.Glu2594Lys
ENST00000684826.1:c.2362G>A	ENSP00000509994.1:p.Glu788Lys
ENST00000687027.1:c.1954G>A	ENSP00000508715.1:p.Glu652Lys
ENST00000687863.1:n.4443G>A
ENST00000689464.1:c.848G>A
ENST00000691014.1:c.7828G>A	ENSP00000510595.1:p.Glu2610Lys
ENST00000693617.1:c.2362G>A	ENSP00000510031.1:p.Glu788Lys
ENST00000358273.9:c.7798G>A MANE Select	ENSP00000351015.4:p.Glu2600Lys
ENST00000356175.7:c.7735G>A	ENSP00000348498.3:p.Glu2579Lys
ENST00000358273.8:c.7798G>A	ENSP00000351015.4:p.Glu2600Lys
ENST00000456735.6:c.6733G>A	ENSP00000389907.2:p.Glu2245Lys
ENST00000471572.6:c.1181G>A
ENST00000577967.1:n.1216G>A
ENST00000579081.5:c.7934G>A	ENSP00000462408.1:n.7934G>A
ENST00000581790.5:c.783G>A
NM_000267.3:c.7735G>A , LRG_214t1:c.7735G>A	NP_000258.1:p.Glu2579Lys
NM_001042492.2:c.7798G>A , LRG_214t2:c.7798G>A	NP_001035957.1:p.Glu2600Lys
XM_005257983.1:c.7798G>A	XP_005258040.1:p.Glu2600Lys
XM_005257984.1:c.7735G>A	XP_005258041.1:p.Glu2579Lys
XM_006721922.1:c.7828G>A	XP_006721985.1:p.Glu2610Lys
XM_006721923.2:c.7789G>A	XP_006721986.1:p.Glu2597Lys
XM_006721924.1:c.7828G>A	XP_006721987.1:p.Glu2610Lys
XM_006721925.1:c.7765G>A	XP_006721988.1:p.Glu2589Lys
XM_006721926.2:c.7828G>A	XP_006721989.1:p.Glu2610Lys
XM_006721927.1:c.7828G>A	XP_006721990.1:p.Glu2610Lys
XM_011524852.1:c.7825G>A	XP_011523154.1:p.Glu2609Lys
XM_011524853.1:c.7789G>A	XP_011523155.1:p.Glu2597Lys
XM_011524854.1:c.7789G>A	XP_011523156.1:p.Glu2597Lys
XM_011524855.1:c.7789G>A	XP_011523157.1:p.Glu2597Lys
XM_011524856.1:c.7789G>A	XP_011523158.1:p.Glu2597Lys
XM_011524857.1:c.7705G>A	XP_011523159.1:p.Glu2569Lys
NM_001042492.3:c.7798G>A MANE Select	NP_001035957.1:p.Glu2600Lys