Canonical Allele Identifier: CA499236830

Gene: NF1

Linked Data

• ClinVar Variation Id: 826808
• ClinVar RCV Id: RCV002067694 ; RCV002400194
• dbSNP Id: rs1597851343
• MyVariant Identifiers: chr17:g.29670089T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343071T>C , CM000679.2:g.31343071T>C	GRCh38
NC_000017.10:g.29670089T>C , CM000679.1:g.29670089T>C	GRCh37
NC_000017.9:g.26694215T>C	NCBI36
NG_009018.1:g.253095T>C , LRG_214:g.253095T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7107T>C	ENSP00000512431.1:p.Asp2369=
ENST00000684826.1:c.1689T>C	ENSP00000509994.1:p.Asp563=
ENST00000687027.1:c.1281T>C	ENSP00000508715.1:p.Asp427=
ENST00000687863.1:n.3770T>C
ENST00000689464.1:c.64T>C
ENST00000691014.1:c.7155T>C	ENSP00000510595.1:p.Asp2385=
ENST00000693617.1:c.1689T>C	ENSP00000510031.1:p.Asp563=
ENST00000358273.9:c.7125T>C MANE Select	ENSP00000351015.4:p.Asp2375=
ENST00000356175.7:c.7062T>C	ENSP00000348498.3:p.Asp2354=
ENST00000358273.8:c.7125T>C	ENSP00000351015.4:p.Asp2375=
ENST00000456735.6:c.6060T>C	ENSP00000389907.2:p.Asp2020=
ENST00000471572.6:c.508T>C
ENST00000579081.5:c.7261T>C	ENSP00000462408.1:n.7261T>C
ENST00000581790.5:c.268T>C
ENST00000582892.1:n.367T>C
ENST00000584328.1:n.539T>C
NM_000267.3:c.7062T>C , LRG_214t1:c.7062T>C	NP_000258.1:p.Asp2354=
NM_001042492.2:c.7125T>C , LRG_214t2:c.7125T>C	NP_001035957.1:p.Asp2375=
XM_005257983.1:c.7125T>C	XP_005258040.1:p.Asp2375=
XM_005257984.1:c.7062T>C	XP_005258041.1:p.Asp2354=
XM_006721922.1:c.7155T>C	XP_006721985.1:p.Asp2385=
XM_006721923.2:c.7116T>C	XP_006721986.1:p.Asp2372=
XM_006721924.1:c.7155T>C	XP_006721987.1:p.Asp2385=
XM_006721925.1:c.7092T>C	XP_006721988.1:p.Asp2364=
XM_006721926.2:c.7155T>C	XP_006721989.1:p.Asp2385=
XM_006721927.1:c.7155T>C	XP_006721990.1:p.Asp2385=
XM_011524852.1:c.7152T>C	XP_011523154.1:p.Asp2384=
XM_011524853.1:c.7116T>C	XP_011523155.1:p.Asp2372=
XM_011524854.1:c.7116T>C	XP_011523156.1:p.Asp2372=
XM_011524855.1:c.7116T>C	XP_011523157.1:p.Asp2372=
XM_011524856.1:c.7116T>C	XP_011523158.1:p.Asp2372=
XM_011524857.1:c.7155T>C	XP_011523159.1:p.Asp2385=
NM_001042492.3:c.7125T>C MANE Select	NP_001035957.1:p.Asp2375=