Canonical Allele Identifier: CA399015771

Gene: NF1

Linked Data

• ClinVar Variation Id: 565569
• ClinVar RCV Id: RCV000685159
• dbSNP Id: rs1555535452
• MyVariant Identifiers: chr17:g.29670144C>G (hg19) ; chr17:g.31343126C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343126C>G , CM000679.2:g.31343126C>G	GRCh38
NC_000017.10:g.29670144C>G , CM000679.1:g.29670144C>G	GRCh37
NC_000017.9:g.26694270C>G	NCBI36
NG_009018.1:g.253150C>G , LRG_214:g.253150C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7162C>G	ENSP00000512431.1:p.Leu2388Val
ENST00000684826.1:c.1744C>G	ENSP00000509994.1:p.Leu582Val
ENST00000687027.1:c.1336C>G	ENSP00000508715.1:p.Leu446Val
ENST00000687863.1:n.3825C>G
ENST00000689464.1:c.119C>G
ENST00000691014.1:c.7210C>G	ENSP00000510595.1:p.Leu2404Val
ENST00000693617.1:c.1744C>G	ENSP00000510031.1:p.Leu582Val
ENST00000358273.9:c.7180C>G MANE Select	ENSP00000351015.4:p.Leu2394Val
ENST00000356175.7:c.7117C>G	ENSP00000348498.3:p.Leu2373Val
ENST00000358273.8:c.7180C>G	ENSP00000351015.4:p.Leu2394Val
ENST00000456735.6:c.6115C>G	ENSP00000389907.2:p.Leu2039Val
ENST00000471572.6:c.563C>G
ENST00000579081.5:c.7316C>G	ENSP00000462408.1:n.7316C>G
ENST00000581790.5:c.323C>G
ENST00000582892.1:n.422C>G
NM_000267.3:c.7117C>G , LRG_214t1:c.7117C>G	NP_000258.1:p.Leu2373Val
NM_001042492.2:c.7180C>G , LRG_214t2:c.7180C>G	NP_001035957.1:p.Leu2394Val
XM_005257983.1:c.7180C>G	XP_005258040.1:p.Leu2394Val
XM_005257984.1:c.7117C>G	XP_005258041.1:p.Leu2373Val
XM_006721922.1:c.7210C>G	XP_006721985.1:p.Leu2404Val
XM_006721923.2:c.7171C>G	XP_006721986.1:p.Leu2391Val
XM_006721924.1:c.7210C>G	XP_006721987.1:p.Leu2404Val
XM_006721925.1:c.7147C>G	XP_006721988.1:p.Leu2383Val
XM_006721926.2:c.7210C>G	XP_006721989.1:p.Leu2404Val
XM_006721927.1:c.7210C>G	XP_006721990.1:p.Leu2404Val
XM_011524852.1:c.7207C>G	XP_011523154.1:p.Leu2403Val
XM_011524853.1:c.7171C>G	XP_011523155.1:p.Leu2391Val
XM_011524854.1:c.7171C>G	XP_011523156.1:p.Leu2391Val
XM_011524855.1:c.7171C>G	XP_011523157.1:p.Leu2391Val
XM_011524856.1:c.7171C>G	XP_011523158.1:p.Leu2391Val
XM_011524857.1:c.7210C>G	XP_011523159.1:p.Leu2404Val
NM_001042492.3:c.7180C>G MANE Select	NP_001035957.1:p.Leu2394Val