Canonical Allele Identifier: CA399015667

Gene: NF1

Linked Data

• dbSNP Id: rs775476318
• MyVariant Identifiers: chr17:g.29670099G>C (hg19) ; chr17:g.31343081G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343081G>C , CM000679.2:g.31343081G>C	GRCh38
NC_000017.10:g.29670099G>C , CM000679.1:g.29670099G>C	GRCh37
NC_000017.9:g.26694225G>C	NCBI36
NG_009018.1:g.253105G>C , LRG_214:g.253105G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7117G>C	ENSP00000512431.1:p.Gly2373Arg
ENST00000684826.1:c.1699G>C	ENSP00000509994.1:p.Gly567Arg
ENST00000687027.1:c.1291G>C	ENSP00000508715.1:p.Gly431Arg
ENST00000687863.1:n.3780G>C
ENST00000689464.1:c.74G>C
ENST00000691014.1:c.7165G>C	ENSP00000510595.1:p.Gly2389Arg
ENST00000693617.1:c.1699G>C	ENSP00000510031.1:p.Gly567Arg
ENST00000358273.9:c.7135G>C MANE Select	ENSP00000351015.4:p.Gly2379Arg
ENST00000356175.7:c.7072G>C	ENSP00000348498.3:p.Gly2358Arg
ENST00000358273.8:c.7135G>C	ENSP00000351015.4:p.Gly2379Arg
ENST00000456735.6:c.6070G>C	ENSP00000389907.2:p.Gly2024Arg
ENST00000471572.6:c.518G>C
ENST00000579081.5:c.7271G>C	ENSP00000462408.1:n.7271G>C
ENST00000581790.5:c.278G>C
ENST00000582892.1:n.377G>C
ENST00000584328.1:n.549G>C
NM_000267.3:c.7072G>C , LRG_214t1:c.7072G>C	NP_000258.1:p.Gly2358Arg
NM_001042492.2:c.7135G>C , LRG_214t2:c.7135G>C	NP_001035957.1:p.Gly2379Arg
XM_005257983.1:c.7135G>C	XP_005258040.1:p.Gly2379Arg
XM_005257984.1:c.7072G>C	XP_005258041.1:p.Gly2358Arg
XM_006721922.1:c.7165G>C	XP_006721985.1:p.Gly2389Arg
XM_006721923.2:c.7126G>C	XP_006721986.1:p.Gly2376Arg
XM_006721924.1:c.7165G>C	XP_006721987.1:p.Gly2389Arg
XM_006721925.1:c.7102G>C	XP_006721988.1:p.Gly2368Arg
XM_006721926.2:c.7165G>C	XP_006721989.1:p.Gly2389Arg
XM_006721927.1:c.7165G>C	XP_006721990.1:p.Gly2389Arg
XM_011524852.1:c.7162G>C	XP_011523154.1:p.Gly2388Arg
XM_011524853.1:c.7126G>C	XP_011523155.1:p.Gly2376Arg
XM_011524854.1:c.7126G>C	XP_011523156.1:p.Gly2376Arg
XM_011524855.1:c.7126G>C	XP_011523157.1:p.Gly2376Arg
XM_011524856.1:c.7126G>C	XP_011523158.1:p.Gly2376Arg
XM_011524857.1:c.7165G>C	XP_011523159.1:p.Gly2389Arg
NM_001042492.3:c.7135G>C MANE Select	NP_001035957.1:p.Gly2379Arg