Canonical Allele Identifier: CA398990493

Gene: NF1

Linked Data

• ClinVar Variation Id: 850167
• ClinVar RCV Id: RCV001054275
• dbSNP Id: rs878853885
• MyVariant Identifiers: chr17:g.29560179G>A (hg19) ; chr17:g.31233161G>A (hg38)
• PubMed: PMID:23913538

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233161G>A , CM000679.2:g.31233161G>A	GRCh38
NC_000017.10:g.29560179G>A , CM000679.1:g.29560179G>A	GRCh37
NC_000017.9:g.26584305G>A	NCBI36
NG_009018.1:g.143185G>A , LRG_214:g.143185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3701G>A	ENSP00000512431.1:p.Gly1234Glu
ENST00000696139.1:c.1001G>A	ENSP00000512432.1:p.Gly334Glu
ENST00000691014.1:c.3686G>A	ENSP00000510595.1:p.Gly1229Glu
ENST00000693210.1:n.382G>A
ENST00000358273.9:c.3656G>A MANE Select	ENSP00000351015.4:p.Gly1219Glu
ENST00000356175.7:c.3656G>A	ENSP00000348498.3:p.Gly1219Glu
ENST00000358273.8:c.3656G>A	ENSP00000351015.4:p.Gly1219Glu
ENST00000456735.6:c.2654G>A	ENSP00000389907.2:p.Gly885Glu
ENST00000466819.5:c.132G>A
ENST00000479614.1:c.132G>A
ENST00000493220.5:n.2192G>A
ENST00000495910.6:c.3431G>A
ENST00000579081.5:c.3758G>A	ENSP00000462408.1:p.Gly1253Glu
NM_000267.3:c.3656G>A , LRG_214t1:c.3656G>A	NP_000258.1:p.Gly1219Glu
NM_001042492.2:c.3656G>A , LRG_214t2:c.3656G>A	NP_001035957.1:p.Gly1219Glu
XM_005257983.1:c.3656G>A	XP_005258040.1:p.Gly1219Glu
XM_005257984.1:c.3656G>A	XP_005258041.1:p.Gly1219Glu
XM_006721922.1:c.3686G>A	XP_006721985.1:p.Gly1229Glu
XM_006721923.2:c.3647G>A	XP_006721986.1:p.Gly1216Glu
XM_006721924.1:c.3686G>A	XP_006721987.1:p.Gly1229Glu
XM_006721925.1:c.3686G>A	XP_006721988.1:p.Gly1229Glu
XM_006721926.2:c.3686G>A	XP_006721989.1:p.Gly1229Glu
XM_006721927.1:c.3686G>A	XP_006721990.1:p.Gly1229Glu
XM_006721928.2:c.3686G>A	XP_006721991.1:p.Gly1229Glu
XM_011524852.1:c.3683G>A	XP_011523154.1:p.Gly1228Glu
XM_011524853.1:c.3647G>A	XP_011523155.1:p.Gly1216Glu
XM_011524854.1:c.3647G>A	XP_011523156.1:p.Gly1216Glu
XM_011524855.1:c.3647G>A	XP_011523157.1:p.Gly1216Glu
XM_011524856.1:c.3647G>A	XP_011523158.1:p.Gly1216Glu
XM_011524857.1:c.3686G>A	XP_011523159.1:p.Gly1229Glu
NM_001042492.3:c.3656G>A MANE Select	NP_001035957.1:p.Gly1219Glu