Canonical Allele Identifier: CA399014412

Gene: NF1

Linked Data

• ClinVar Variation Id: 1445029
• ClinVar RCV Id: RCV001958172
• dbSNP Id: rs786203861
• MyVariant Identifiers: chr17:g.29665802A>T (hg19) ; chr17:g.31338784A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338784A>T , CM000679.2:g.31338784A>T	GRCh38
NC_000017.10:g.29665802A>T , CM000679.1:g.29665802A>T	GRCh37
NC_000017.9:g.26689928A>T	NCBI36
NG_009018.1:g.248808A>T , LRG_214:g.248808A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6882A>T	ENSP00000512431.1:p.Lys2294Asn
ENST00000684826.1:c.1464A>T	ENSP00000509994.1:p.Lys488Asn
ENST00000684998.1:n.2722A>T
ENST00000687027.1:c.1056A>T	ENSP00000508715.1:p.Lys352Asn
ENST00000687863.1:n.3545A>T
ENST00000691014.1:c.6930A>T	ENSP00000510595.1:p.Lys2310Asn
ENST00000693617.1:c.1464A>T	ENSP00000510031.1:p.Lys488Asn
ENST00000358273.9:c.6900A>T MANE Select	ENSP00000351015.4:p.Lys2300Asn
ENST00000356175.7:c.6837A>T	ENSP00000348498.3:p.Lys2279Asn
ENST00000358273.8:c.6900A>T	ENSP00000351015.4:p.Lys2300Asn
ENST00000456735.6:c.5835A>T	ENSP00000389907.2:p.Lys1945Asn
ENST00000471572.6:c.283A>T
ENST00000579081.5:c.7036A>T	ENSP00000462408.1:n.7036A>T
ENST00000581790.5:c.64+904A>T
ENST00000584328.1:n.314A>T
NM_000267.3:c.6837A>T , LRG_214t1:c.6837A>T	NP_000258.1:p.Lys2279Asn
NM_001042492.2:c.6900A>T , LRG_214t2:c.6900A>T	NP_001035957.1:p.Lys2300Asn
XM_005257983.1:c.6900A>T	XP_005258040.1:p.Lys2300Asn
XM_005257984.1:c.6837A>T	XP_005258041.1:p.Lys2279Asn
XM_006721922.1:c.6930A>T	XP_006721985.1:p.Lys2310Asn
XM_006721923.2:c.6891A>T	XP_006721986.1:p.Lys2297Asn
XM_006721924.1:c.6930A>T	XP_006721987.1:p.Lys2310Asn
XM_006721925.1:c.6867A>T	XP_006721988.1:p.Lys2289Asn
XM_006721926.2:c.6930A>T	XP_006721989.1:p.Lys2310Asn
XM_006721927.1:c.6930A>T	XP_006721990.1:p.Lys2310Asn
XM_011524852.1:c.6927A>T	XP_011523154.1:p.Lys2309Asn
XM_011524853.1:c.6891A>T	XP_011523155.1:p.Lys2297Asn
XM_011524854.1:c.6891A>T	XP_011523156.1:p.Lys2297Asn
XM_011524855.1:c.6891A>T	XP_011523157.1:p.Lys2297Asn
XM_011524856.1:c.6891A>T	XP_011523158.1:p.Lys2297Asn
XM_011524857.1:c.6930A>T	XP_011523159.1:p.Lys2310Asn
NM_001042492.3:c.6900A>T MANE Select	NP_001035957.1:p.Lys2300Asn