Canonical Allele Identifier: CA398995082

Gene: NF1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31249108T>C , CM000679.2:g.31249108T>C	GRCh38
NC_000017.10:g.29576126T>C , CM000679.1:g.29576126T>C	GRCh37
NC_000017.9:g.26600252T>C	NCBI36
NG_009018.1:g.159132T>C , LRG_214:g.159132T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.4099T>C MANE Select	NP_001035957.1:p.Cys1367Arg
ENST00000358273.9:c.4099T>C MANE Select	ENSP00000351015.4:p.Cys1367Arg
NM_000267.3:c.4099T>C , LRG_214t1:c.4099T>C	NP_000258.1:p.Cys1367Arg
NM_001042492.2:c.4099T>C , LRG_214t2:c.4099T>C	NP_001035957.1:p.Cys1367Arg
ENST00000356175.7:c.4099T>C	ENSP00000348498.3:p.Cys1367Arg
ENST00000358273.8:c.4099T>C	ENSP00000351015.4:p.Cys1367Arg
ENST00000456735.6:c.3097T>C	ENSP00000389907.2:p.Cys1033Arg
ENST00000466819.5:c.575T>C
ENST00000479614.1:c.575T>C
ENST00000493220.5:n.2635T>C
ENST00000495910.6:c.3874T>C
ENST00000579081.5:c.4201T>C	ENSP00000462408.1:p.Cys1401Arg
ENST00000687863.1:n.807T>C
ENST00000691014.1:c.4129T>C	ENSP00000510595.1:p.Cys1377Arg
ENST00000696138.1:c.4144T>C	ENSP00000512431.1:p.Cys1382Arg
ENST00000696139.1:c.1562T>C	ENSP00000512432.1:n.1562T>C
ENST00000696140.1:n.205T>C
XM_005257983.1:c.4099T>C	XP_005258040.1:p.Cys1367Arg
XM_005257984.1:c.4099T>C	XP_005258041.1:p.Cys1367Arg
XM_006721922.1:c.4129T>C	XP_006721985.1:p.Cys1377Arg
XM_006721923.2:c.4090T>C	XP_006721986.1:p.Cys1364Arg
XM_006721924.1:c.4129T>C	XP_006721987.1:p.Cys1377Arg
XM_006721925.1:c.4129T>C	XP_006721988.1:p.Cys1377Arg
XM_006721926.2:c.4129T>C	XP_006721989.1:p.Cys1377Arg
XM_006721927.1:c.4129T>C	XP_006721990.1:p.Cys1377Arg
XM_006721928.2:c.4129T>C	XP_006721991.1:p.Cys1377Arg
XM_011524852.1:c.4126T>C	XP_011523154.1:p.Cys1376Arg
XM_011524853.1:c.4090T>C	XP_011523155.1:p.Cys1364Arg
XM_011524854.1:c.4090T>C	XP_011523156.1:p.Cys1364Arg
XM_011524855.1:c.4090T>C	XP_011523157.1:p.Cys1364Arg
XM_011524856.1:c.4090T>C	XP_011523158.1:p.Cys1364Arg
XM_011524857.1:c.4129T>C	XP_011523159.1:p.Cys1377Arg