Canonical Allele Identifier: CA399014135

Gene: NF1

Linked Data

• ClinVar Variation Id: 826571
• ClinVar RCV Id: RCV002354970
• dbSNP Id: rs1597845104
• MyVariant Identifiers: chr17:g.29665114T>C (hg19) ; chr17:g.31338096T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338096T>C , CM000679.2:g.31338096T>C	GRCh38
NC_000017.10:g.29665114T>C , CM000679.1:g.29665114T>C	GRCh37
NC_000017.9:g.26689240T>C	NCBI36
NG_009018.1:g.248120T>C , LRG_214:g.248120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6758T>C	ENSP00000512431.1:p.Val2253Ala
ENST00000684826.1:c.1340T>C	ENSP00000509994.1:p.Val447Ala
ENST00000684998.1:n.2034T>C
ENST00000687027.1:c.932T>C	ENSP00000508715.1:p.Val311Ala
ENST00000687863.1:n.3421T>C
ENST00000691014.1:c.6806T>C	ENSP00000510595.1:p.Val2269Ala
ENST00000693617.1:c.1340T>C	ENSP00000510031.1:p.Val447Ala
ENST00000358273.9:c.6776T>C MANE Select	ENSP00000351015.4:p.Val2259Ala
ENST00000356175.7:c.6713T>C	ENSP00000348498.3:p.Val2238Ala
ENST00000358273.8:c.6776T>C	ENSP00000351015.4:p.Val2259Ala
ENST00000456735.6:c.5711T>C	ENSP00000389907.2:p.Val1904Ala
ENST00000471572.6:c.159T>C
ENST00000579081.5:c.6912T>C	ENSP00000462408.1:n.6912T>C
ENST00000581790.5:c.64+216T>C
ENST00000584328.1:n.190T>C
NM_000267.3:c.6713T>C , LRG_214t1:c.6713T>C	NP_000258.1:p.Val2238Ala
NM_001042492.2:c.6776T>C , LRG_214t2:c.6776T>C	NP_001035957.1:p.Val2259Ala
XM_005257983.1:c.6776T>C	XP_005258040.1:p.Val2259Ala
XM_005257984.1:c.6713T>C	XP_005258041.1:p.Val2238Ala
XM_006721922.1:c.6806T>C	XP_006721985.1:p.Val2269Ala
XM_006721923.2:c.6767T>C	XP_006721986.1:p.Val2256Ala
XM_006721924.1:c.6806T>C	XP_006721987.1:p.Val2269Ala
XM_006721925.1:c.6743T>C	XP_006721988.1:p.Val2248Ala
XM_006721926.2:c.6806T>C	XP_006721989.1:p.Val2269Ala
XM_006721927.1:c.6806T>C	XP_006721990.1:p.Val2269Ala
XM_011524852.1:c.6803T>C	XP_011523154.1:p.Val2268Ala
XM_011524853.1:c.6767T>C	XP_011523155.1:p.Val2256Ala
XM_011524854.1:c.6767T>C	XP_011523156.1:p.Val2256Ala
XM_011524855.1:c.6767T>C	XP_011523157.1:p.Val2256Ala
XM_011524856.1:c.6767T>C	XP_011523158.1:p.Val2256Ala
XM_011524857.1:c.6806T>C	XP_011523159.1:p.Val2269Ala
NM_001042492.3:c.6776T>C MANE Select	NP_001035957.1:p.Val2259Ala