Canonical Allele Identifier: CA8487512

Gene: NF1

Linked Data

• ClinVar Variation Id: 257300
• ClinVar RCV Id: RCV000250694 ; RCV000680776 ; RCV001782743 ; RCV003316370
• dbSNP Id: rs7405740
• ExAC: 17:29670190 C / G
• gnomAD v2: 17-29670190-C-G
• gnomAD v3: 17-31343172-C-G
• gnomAD v4: 17-31343172-C-G
• MyVariant Identifiers: chr17:g.29670190C>G (hg19) ; chr17:g.31343172C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343172C>G , CM000679.2:g.31343172C>G	GRCh38
NC_000017.10:g.29670190C>G , CM000679.1:g.29670190C>G	GRCh37
NC_000017.9:g.26694316C>G	NCBI36
NG_009018.1:g.253196C>G , LRG_214:g.253196C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.7171+37C>G	ENSP00000512431.1:n.7171+37C>G
ENST00000684826.1:c.1753+37C>G	ENSP00000509994.1:n.1753+37C>G
ENST00000687027.1:c.1345+37C>G	ENSP00000508715.1:n.1345+37C>G
ENST00000687863.1:n.3834+37C>G
ENST00000689464.1:c.128+37C>G
ENST00000691014.1:c.7219+37C>G	ENSP00000510595.1:n.7219+37C>G
ENST00000693617.1:c.1753+37C>G	ENSP00000510031.1:n.1753+37C>G
ENST00000358273.9:c.7189+37C>G MANE Select	ENSP00000351015.4:n.7189+37C>G
ENST00000356175.7:c.7126+37C>G	ENSP00000348498.3:n.7126+37C>G
ENST00000358273.8:c.7189+37C>G	ENSP00000351015.4:n.7189+37C>G
ENST00000456735.6:c.6124+37C>G	ENSP00000389907.2:n.6124+37C>G
ENST00000471572.6:c.572+37C>G
ENST00000579081.5:c.7325+37C>G	ENSP00000462408.1:n.7325+37C>G
ENST00000581790.5:c.332+37C>G
ENST00000582892.1:n.431+37C>G
NM_000267.3:c.7126+37C>G , LRG_214t1:c.7126+37C>G	NP_000258.1:n.7126+37C>G
NM_001042492.2:c.7189+37C>G , LRG_214t2:c.7189+37C>G	NP_001035957.1:n.7189+37C>G
XM_005257983.1:c.7189+37C>G	XP_005258040.1:n.7189+37C>G
XM_005257984.1:c.7126+37C>G	XP_005258041.1:n.7126+37C>G
XM_006721922.1:c.7219+37C>G	XP_006721985.1:n.7219+37C>G
XM_006721923.2:c.7180+37C>G	XP_006721986.1:n.7180+37C>G
XM_006721924.1:c.7219+37C>G	XP_006721987.1:n.7219+37C>G
XM_006721925.1:c.7156+37C>G	XP_006721988.1:n.7156+37C>G
XM_006721926.2:c.7219+37C>G	XP_006721989.1:n.7219+37C>G
XM_006721927.1:c.7219+37C>G	XP_006721990.1:n.7219+37C>G
XM_011524852.1:c.7216+37C>G	XP_011523154.1:n.7216+37C>G
XM_011524853.1:c.7180+37C>G	XP_011523155.1:n.7180+37C>G
XM_011524854.1:c.7180+37C>G	XP_011523156.1:n.7180+37C>G
XM_011524855.1:c.7180+37C>G	XP_011523157.1:n.7180+37C>G
XM_011524856.1:c.7180+37C>G	XP_011523158.1:n.7180+37C>G
XM_011524857.1:c.7219+37C>G	XP_011523159.1:n.7219+37C>G
NM_001042492.3:c.7189+37C>G MANE Select	NP_001035957.1:n.7189+37C>G