Canonical Allele Identifier: CA399014256

Gene: NF1

Linked Data

• dbSNP Id: rs2069742604
• MyVariant Identifiers: chr17:g.29665730G>T (hg19) ; chr17:g.31338712G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338712G>T , CM000679.2:g.31338712G>T	GRCh38
NC_000017.10:g.29665730G>T , CM000679.1:g.29665730G>T	GRCh37
NC_000017.9:g.26689856G>T	NCBI36
NG_009018.1:g.248736G>T , LRG_214:g.248736G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6810G>T	ENSP00000512431.1:p.Glu2270Asp
ENST00000684826.1:c.1392G>T	ENSP00000509994.1:p.Glu464Asp
ENST00000684998.1:n.2650G>T
ENST00000687027.1:c.984G>T	ENSP00000508715.1:p.Glu328Asp
ENST00000687863.1:n.3473G>T
ENST00000691014.1:c.6858G>T	ENSP00000510595.1:p.Glu2286Asp
ENST00000693617.1:c.1392G>T	ENSP00000510031.1:p.Glu464Asp
ENST00000358273.9:c.6828G>T MANE Select	ENSP00000351015.4:p.Glu2276Asp
ENST00000356175.7:c.6765G>T	ENSP00000348498.3:p.Glu2255Asp
ENST00000358273.8:c.6828G>T	ENSP00000351015.4:p.Glu2276Asp
ENST00000456735.6:c.5763G>T	ENSP00000389907.2:p.Glu1921Asp
ENST00000471572.6:c.211G>T
ENST00000579081.5:c.6964G>T	ENSP00000462408.1:n.6964G>T
ENST00000581790.5:c.64+832G>T
ENST00000584328.1:n.242G>T
NM_000267.3:c.6765G>T , LRG_214t1:c.6765G>T	NP_000258.1:p.Glu2255Asp
NM_001042492.2:c.6828G>T , LRG_214t2:c.6828G>T	NP_001035957.1:p.Glu2276Asp
XM_005257983.1:c.6828G>T	XP_005258040.1:p.Glu2276Asp
XM_005257984.1:c.6765G>T	XP_005258041.1:p.Glu2255Asp
XM_006721922.1:c.6858G>T	XP_006721985.1:p.Glu2286Asp
XM_006721923.2:c.6819G>T	XP_006721986.1:p.Glu2273Asp
XM_006721924.1:c.6858G>T	XP_006721987.1:p.Glu2286Asp
XM_006721925.1:c.6795G>T	XP_006721988.1:p.Glu2265Asp
XM_006721926.2:c.6858G>T	XP_006721989.1:p.Glu2286Asp
XM_006721927.1:c.6858G>T	XP_006721990.1:p.Glu2286Asp
XM_011524852.1:c.6855G>T	XP_011523154.1:p.Glu2285Asp
XM_011524853.1:c.6819G>T	XP_011523155.1:p.Glu2273Asp
XM_011524854.1:c.6819G>T	XP_011523156.1:p.Glu2273Asp
XM_011524855.1:c.6819G>T	XP_011523157.1:p.Glu2273Asp
XM_011524856.1:c.6819G>T	XP_011523158.1:p.Glu2273Asp
XM_011524857.1:c.6858G>T	XP_011523159.1:p.Glu2286Asp
NM_001042492.3:c.6828G>T MANE Select	NP_001035957.1:p.Glu2276Asp