Canonical Allele Identifier: CA399012981

Gene: NF1

Linked Data

• ClinVar Variation Id: 2736568
• ClinVar RCV Id: RCV003494741
• dbSNP Id: rs1060500312
• MyVariant Identifiers: chr17:g.29664384A>T (hg19) ; chr17:g.31337366A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31337366A>T , CM000679.2:g.31337366A>T	GRCh38
NC_000017.10:g.29664384A>T , CM000679.1:g.29664384A>T	GRCh37
NC_000017.9:g.26688510A>T	NCBI36
NG_009018.1:g.247390A>T , LRG_214:g.247390A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696138.1:c.6410-2A>T	ENSP00000512431.1:n.6410-2A>T
ENST00000684826.1:c.992-2A>T	ENSP00000509994.1:n.992-2A>T
ENST00000684998.1:n.1304A>T
ENST00000687027.1:c.584-2A>T	ENSP00000508715.1:n.584-2A>T
ENST00000687863.1:n.3073-2A>T
ENST00000691014.1:c.6458-2A>T	ENSP00000510595.1:n.6458-2A>T
ENST00000693617.1:c.992-2A>T	ENSP00000510031.1:n.992-2A>T
ENST00000358273.9:c.6428-2A>T MANE Select	ENSP00000351015.4:n.6428-2A>T
ENST00000356175.7:c.6365-2A>T	ENSP00000348498.3:n.6365-2A>T
ENST00000358273.8:c.6428-2A>T	ENSP00000351015.4:n.6428-2A>T
ENST00000456735.6:c.5363-2A>T	ENSP00000389907.2:n.5363-2A>T
ENST00000579081.5:c.6564-2A>T	ENSP00000462408.1:n.6564-2A>T
NM_000267.3:c.6365-2A>T , LRG_214t1:c.6365-2A>T	NP_000258.1:n.6365-2A>T
NM_001042492.2:c.6428-2A>T , LRG_214t2:c.6428-2A>T	NP_001035957.1:n.6428-2A>T
XM_005257983.1:c.6428-2A>T	XP_005258040.1:n.6428-2A>T
XM_005257984.1:c.6365-2A>T	XP_005258041.1:n.6365-2A>T
XM_006721922.1:c.6458-2A>T	XP_006721985.1:n.6458-2A>T
XM_006721923.2:c.6419-2A>T	XP_006721986.1:n.6419-2A>T
XM_006721924.1:c.6458-2A>T	XP_006721987.1:n.6458-2A>T
XM_006721925.1:c.6395-2A>T	XP_006721988.1:n.6395-2A>T
XM_006721926.2:c.6458-2A>T	XP_006721989.1:n.6458-2A>T
XM_006721927.1:c.6458-2A>T	XP_006721990.1:n.6458-2A>T
XM_011524852.1:c.6455-2A>T	XP_011523154.1:n.6455-2A>T
XM_011524853.1:c.6419-2A>T	XP_011523155.1:n.6419-2A>T
XM_011524854.1:c.6419-2A>T	XP_011523156.1:n.6419-2A>T
XM_011524855.1:c.6419-2A>T	XP_011523157.1:n.6419-2A>T
XM_011524856.1:c.6419-2A>T	XP_011523158.1:n.6419-2A>T
XM_011524857.1:c.6458-2A>T	XP_011523159.1:n.6458-2A>T
NM_001042492.3:c.6428-2A>T MANE Select	NP_001035957.1:n.6428-2A>T