Canonical Allele Identifier: CA399000094

Gene: NF1

Linked Data

• dbSNP Id: rs2151466189
• MyVariant Identifiers: chr17:g.29588732T>G (hg19) ; chr17:g.31261714T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31261714T>G , CM000679.2:g.31261714T>G	GRCh38
NC_000017.10:g.29588732T>G , CM000679.1:g.29588732T>G	GRCh37
NC_000017.9:g.26612858T>G	NCBI36
NG_009018.1:g.171738T>G , LRG_214:g.171738T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.383T>G	ENSP00000492721.2:p.Ile128Ser
ENST00000696138.1:c.4563T>G	ENSP00000512431.1:p.Asp1521Glu
ENST00000696140.1:n.687T>G
ENST00000696141.1:c.572T>G
ENST00000687863.1:n.1226T>G
ENST00000691014.1:c.4611T>G	ENSP00000510595.1:p.Asp1537Glu
ENST00000358273.9:c.4581T>G MANE Select	ENSP00000351015.4:p.Asp1527Glu
ENST00000356175.7:c.4518T>G	ENSP00000348498.3:p.Asp1506Glu
ENST00000358273.8:c.4581T>G	ENSP00000351015.4:p.Asp1527Glu
ENST00000456735.6:c.3516T>G	ENSP00000389907.2:p.Asp1172Glu
ENST00000466819.5:c.1097T>G
ENST00000479614.1:c.1034T>G
ENST00000493220.5:n.3054T>G
ENST00000579081.5:c.4620T>G	ENSP00000462408.1:p.Asp1540Glu
NM_000267.3:c.4518T>G , LRG_214t1:c.4518T>G	NP_000258.1:p.Asp1506Glu
NM_001042492.2:c.4581T>G , LRG_214t2:c.4581T>G	NP_001035957.1:p.Asp1527Glu
XM_005257983.1:c.4581T>G	XP_005258040.1:p.Asp1527Glu
XM_005257984.1:c.4518T>G	XP_005258041.1:p.Asp1506Glu
XM_006721922.1:c.4611T>G	XP_006721985.1:p.Asp1537Glu
XM_006721923.2:c.4572T>G	XP_006721986.1:p.Asp1524Glu
XM_006721924.1:c.4611T>G	XP_006721987.1:p.Asp1537Glu
XM_006721925.1:c.4548T>G	XP_006721988.1:p.Asp1516Glu
XM_006721926.2:c.4611T>G	XP_006721989.1:p.Asp1537Glu
XM_006721927.1:c.4611T>G	XP_006721990.1:p.Asp1537Glu
XM_006721928.2:c.4611T>G	XP_006721991.1:p.Asp1537Glu
XM_011524852.1:c.4608T>G	XP_011523154.1:p.Asp1536Glu
XM_011524853.1:c.4572T>G	XP_011523155.1:p.Asp1524Glu
XM_011524854.1:c.4572T>G	XP_011523156.1:p.Asp1524Glu
XM_011524855.1:c.4572T>G	XP_011523157.1:p.Asp1524Glu
XM_011524856.1:c.4572T>G	XP_011523158.1:p.Asp1524Glu
XM_011524857.1:c.4611T>G	XP_011523159.1:p.Asp1537Glu
NM_001042492.3:c.4581T>G MANE Select	NP_001035957.1:p.Asp1527Glu