Canonical Allele Identifier: CA191443

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338093G>A , CM000679.2:g.31338093G>A	GRCh38
NC_000017.10:g.29665111G>A , CM000679.1:g.29665111G>A	GRCh37
NC_000017.9:g.26689237G>A	NCBI36
NG_009018.1:g.248117G>A , LRG_214:g.248117G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.6773G>A MANE Select	NP_001035957.1:p.Arg2258Gln
ENST00000358273.9:c.6773G>A MANE Select	ENSP00000351015.4:p.Arg2258Gln
NM_000267.3:c.6710G>A , LRG_214t1:c.6710G>A	NP_000258.1:p.Arg2237Gln
NM_001042492.2:c.6773G>A , LRG_214t2:c.6773G>A	NP_001035957.1:p.Arg2258Gln
ENST00000356175.7:c.6710G>A	ENSP00000348498.3:p.Arg2237Gln
ENST00000358273.8:c.6773G>A	ENSP00000351015.4:p.Arg2258Gln
ENST00000456735.6:c.5708G>A	ENSP00000389907.2:p.Arg1903Gln
ENST00000471572.6:c.156G>A
ENST00000579081.5:c.6909G>A	ENSP00000462408.1:n.6909G>A
ENST00000581790.5:c.64+213G>A
ENST00000584328.1:n.187G>A
ENST00000684826.1:c.1337G>A	ENSP00000509994.1:p.Arg446Gln
ENST00000684998.1:n.2031G>A
ENST00000687027.1:c.929G>A	ENSP00000508715.1:p.Arg310Gln
ENST00000687863.1:n.3418G>A
ENST00000691014.1:c.6803G>A	ENSP00000510595.1:p.Arg2268Gln
ENST00000693617.1:c.1337G>A	ENSP00000510031.1:p.Arg446Gln
ENST00000696138.1:c.6755G>A	ENSP00000512431.1:p.Arg2252Gln
XM_005257983.1:c.6773G>A	XP_005258040.1:p.Arg2258Gln
XM_005257984.1:c.6710G>A	XP_005258041.1:p.Arg2237Gln
XM_006721922.1:c.6803G>A	XP_006721985.1:p.Arg2268Gln
XM_006721923.2:c.6764G>A	XP_006721986.1:p.Arg2255Gln
XM_006721924.1:c.6803G>A	XP_006721987.1:p.Arg2268Gln
XM_006721925.1:c.6740G>A	XP_006721988.1:p.Arg2247Gln
XM_006721926.2:c.6803G>A	XP_006721989.1:p.Arg2268Gln
XM_006721927.1:c.6803G>A	XP_006721990.1:p.Arg2268Gln
XM_011524852.1:c.6800G>A	XP_011523154.1:p.Arg2267Gln
XM_011524853.1:c.6764G>A	XP_011523155.1:p.Arg2255Gln
XM_011524854.1:c.6764G>A	XP_011523156.1:p.Arg2255Gln
XM_011524855.1:c.6764G>A	XP_011523157.1:p.Arg2255Gln
XM_011524856.1:c.6764G>A	XP_011523158.1:p.Arg2255Gln
XM_011524857.1:c.6803G>A	XP_011523159.1:p.Arg2268Gln