Canonical Allele Identifier: CA289396199

Gene: NF1

Linked Data

• ClinVar Variation Id: 480185
• ClinVar RCV Id: RCV001453557 ; RCV002315774
• dbSNP Id: rs981246691
• MyVariant Identifiers: chr17:g.29670059T>C (hg19) ; chr17:g.31343041T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343041T>C , CM000679.2:g.31343041T>C	GRCh38
NC_000017.10:g.29670059T>C , CM000679.1:g.29670059T>C	GRCh37
NC_000017.9:g.26694185T>C	NCBI36
NG_009018.1:g.253065T>C , LRG_214:g.253065T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7077T>C	ENSP00000512431.1:p.Asn2359=
ENST00000684826.1:c.1659T>C	ENSP00000509994.1:p.Asn553=
ENST00000687027.1:c.1251T>C	ENSP00000508715.1:p.Asn417=
ENST00000687863.1:n.3740T>C
ENST00000689464.1:c.34T>C
ENST00000691014.1:c.7125T>C	ENSP00000510595.1:p.Asn2375=
ENST00000693617.1:c.1659T>C	ENSP00000510031.1:p.Asn553=
ENST00000358273.9:c.7095T>C MANE Select	ENSP00000351015.4:p.Asn2365=
ENST00000356175.7:c.7032T>C	ENSP00000348498.3:p.Asn2344=
ENST00000358273.8:c.7095T>C	ENSP00000351015.4:p.Asn2365=
ENST00000456735.6:c.6030T>C	ENSP00000389907.2:p.Asn2010=
ENST00000471572.6:c.478T>C
ENST00000579081.5:c.7231T>C	ENSP00000462408.1:n.7231T>C
ENST00000581790.5:c.238T>C
ENST00000582892.1:n.337T>C
ENST00000584328.1:n.509T>C
NM_000267.3:c.7032T>C , LRG_214t1:c.7032T>C	NP_000258.1:p.Asn2344=
NM_001042492.2:c.7095T>C , LRG_214t2:c.7095T>C	NP_001035957.1:p.Asn2365=
XM_005257983.1:c.7095T>C	XP_005258040.1:p.Asn2365=
XM_005257984.1:c.7032T>C	XP_005258041.1:p.Asn2344=
XM_006721922.1:c.7125T>C	XP_006721985.1:p.Asn2375=
XM_006721923.2:c.7086T>C	XP_006721986.1:p.Asn2362=
XM_006721924.1:c.7125T>C	XP_006721987.1:p.Asn2375=
XM_006721925.1:c.7062T>C	XP_006721988.1:p.Asn2354=
XM_006721926.2:c.7125T>C	XP_006721989.1:p.Asn2375=
XM_006721927.1:c.7125T>C	XP_006721990.1:p.Asn2375=
XM_011524852.1:c.7122T>C	XP_011523154.1:p.Asn2374=
XM_011524853.1:c.7086T>C	XP_011523155.1:p.Asn2362=
XM_011524854.1:c.7086T>C	XP_011523156.1:p.Asn2362=
XM_011524855.1:c.7086T>C	XP_011523157.1:p.Asn2362=
XM_011524856.1:c.7086T>C	XP_011523158.1:p.Asn2362=
XM_011524857.1:c.7125T>C	XP_011523159.1:p.Asn2375=
NM_001042492.3:c.7095T>C MANE Select	NP_001035957.1:p.Asn2365=