Canonical Allele Identifier: CA499239325

Gene: NF1

Linked Data

• ClinVar Variation Id: 793640
• ClinVar RCV Id: RCV002391018
• dbSNP Id: rs1597862289
• MyVariant Identifiers: chr17:g.29679428G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31352410G>A , CM000679.2:g.31352410G>A	GRCh38
NC_000017.10:g.29679428G>A , CM000679.1:g.29679428G>A	GRCh37
NC_000017.9:g.26703554G>A	NCBI36
NG_009018.1:g.262434G>A , LRG_214:g.262434G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7593G>A	ENSP00000512431.1:p.Leu2531=
ENST00000684826.1:c.2175G>A	ENSP00000509994.1:p.Leu725=
ENST00000687027.1:c.1767G>A	ENSP00000508715.1:p.Leu589=
ENST00000687863.1:n.4256G>A
ENST00000689464.1:c.661G>A
ENST00000691014.1:c.7641G>A	ENSP00000510595.1:p.Leu2547=
ENST00000693617.1:c.2175G>A	ENSP00000510031.1:p.Leu725=
ENST00000358273.9:c.7611G>A MANE Select	ENSP00000351015.4:p.Leu2537=
ENST00000356175.7:c.7548G>A	ENSP00000348498.3:p.Leu2516=
ENST00000358273.8:c.7611G>A	ENSP00000351015.4:p.Leu2537=
ENST00000456735.6:c.6546G>A	ENSP00000389907.2:p.Leu2182=
ENST00000471572.6:c.994G>A
ENST00000579081.5:c.7747G>A	ENSP00000462408.1:n.7747G>A
ENST00000581790.5:c.600+2092G>A
NM_000267.3:c.7548G>A , LRG_214t1:c.7548G>A	NP_000258.1:p.Leu2516=
NM_001042492.2:c.7611G>A , LRG_214t2:c.7611G>A	NP_001035957.1:p.Leu2537=
XM_005257983.1:c.7611G>A	XP_005258040.1:p.Leu2537=
XM_005257984.1:c.7548G>A	XP_005258041.1:p.Leu2516=
XM_006721922.1:c.7641G>A	XP_006721985.1:p.Leu2547=
XM_006721923.2:c.7602G>A	XP_006721986.1:p.Leu2534=
XM_006721924.1:c.7641G>A	XP_006721987.1:p.Leu2547=
XM_006721925.1:c.7578G>A	XP_006721988.1:p.Leu2526=
XM_006721926.2:c.7641G>A	XP_006721989.1:p.Leu2547=
XM_006721927.1:c.7641G>A	XP_006721990.1:p.Leu2547=
XM_011524852.1:c.7638G>A	XP_011523154.1:p.Leu2546=
XM_011524853.1:c.7602G>A	XP_011523155.1:p.Leu2534=
XM_011524854.1:c.7602G>A	XP_011523156.1:p.Leu2534=
XM_011524855.1:c.7602G>A	XP_011523157.1:p.Leu2534=
XM_011524856.1:c.7602G>A	XP_011523158.1:p.Leu2534=
XM_011524857.1:c.7641G>A	XP_011523159.1:p.Leu2547=
NM_001042492.3:c.7611G>A MANE Select	NP_001035957.1:p.Leu2537=