Canonical Allele Identifier: CA166008

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229049A>C , CM000679.2:g.31229049A>C	GRCh38
NC_000017.10:g.29556067A>C , CM000679.1:g.29556067A>C	GRCh37
NC_000017.9:g.26580193A>C	NCBI36
NG_009018.1:g.139073A>C , LRG_214:g.139073A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.2434A>C MANE Select	NP_001035957.1:p.Ile812Leu
ENST00000358273.9:c.2434A>C MANE Select	ENSP00000351015.4:p.Ile812Leu
NM_000267.3:c.2434A>C , LRG_214t1:c.2434A>C	NP_000258.1:p.Ile812Leu
NM_001042492.2:c.2434A>C , LRG_214t2:c.2434A>C	NP_001035957.1:p.Ile812Leu
ENST00000356175.7:c.2434A>C	ENSP00000348498.3:p.Ile812Leu
ENST00000358273.8:c.2434A>C	ENSP00000351015.4:p.Ile812Leu
ENST00000456735.6:c.1432A>C	ENSP00000389907.2:p.Ile478Leu
ENST00000493220.5:n.601A>C
ENST00000495910.6:c.2209A>C
ENST00000579081.5:c.2536A>C	ENSP00000462408.1:p.Ile846Leu
ENST00000691014.1:c.2464A>C	ENSP00000510595.1:p.Ile822Leu
ENST00000696138.1:c.2479A>C	ENSP00000512431.1:p.Ile827Leu
XM_005257983.1:c.2434A>C	XP_005258040.1:p.Ile812Leu
XM_005257984.1:c.2434A>C	XP_005258041.1:p.Ile812Leu
XM_006721922.1:c.2464A>C	XP_006721985.1:p.Ile822Leu
XM_006721923.2:c.2425A>C	XP_006721986.1:p.Ile809Leu
XM_006721924.1:c.2464A>C	XP_006721987.1:p.Ile822Leu
XM_006721925.1:c.2464A>C	XP_006721988.1:p.Ile822Leu
XM_006721926.2:c.2464A>C	XP_006721989.1:p.Ile822Leu
XM_006721927.1:c.2464A>C	XP_006721990.1:p.Ile822Leu
XM_006721928.2:c.2464A>C	XP_006721991.1:p.Ile822Leu
XM_011524852.1:c.2461A>C	XP_011523154.1:p.Ile821Leu
XM_011524853.1:c.2425A>C	XP_011523155.1:p.Ile809Leu
XM_011524854.1:c.2425A>C	XP_011523156.1:p.Ile809Leu
XM_011524855.1:c.2425A>C	XP_011523157.1:p.Ile809Leu
XM_011524856.1:c.2425A>C	XP_011523158.1:p.Ile809Leu
XM_011524857.1:c.2464A>C	XP_011523159.1:p.Ile822Leu