Canonical Allele Identifier: CA499236782

Gene: NF1

Linked Data

• ClinVar Variation Id: 719882
• ClinVar RCV Id: RCV002065592 ; RCV003169245
• dbSNP Id: rs1483485648
• gnomAD v4: 17-31343023-A-T
• MyVariant Identifiers: chr17:g.29670041A>T (hg19) ; chr17:g.31343023A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343023A>T , CM000679.2:g.31343023A>T	GRCh38
NC_000017.10:g.29670041A>T , CM000679.1:g.29670041A>T	GRCh37
NC_000017.9:g.26694167A>T	NCBI36
NG_009018.1:g.253047A>T , LRG_214:g.253047A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7059A>T	ENSP00000512431.1:p.Val2353=
ENST00000684826.1:c.1641A>T	ENSP00000509994.1:p.Val547=
ENST00000687027.1:c.1233A>T	ENSP00000508715.1:p.Val411=
ENST00000687863.1:n.3722A>T
ENST00000689464.1:c.16A>T
ENST00000691014.1:c.7107A>T	ENSP00000510595.1:p.Val2369=
ENST00000693617.1:c.1641A>T	ENSP00000510031.1:p.Val547=
ENST00000358273.9:c.7077A>T MANE Select	ENSP00000351015.4:p.Val2359=
ENST00000356175.7:c.7014A>T	ENSP00000348498.3:p.Val2338=
ENST00000358273.8:c.7077A>T	ENSP00000351015.4:p.Val2359=
ENST00000456735.6:c.6012A>T	ENSP00000389907.2:p.Val2004=
ENST00000471572.6:c.460A>T
ENST00000579081.5:c.7213A>T	ENSP00000462408.1:n.7213A>T
ENST00000581790.5:c.220A>T
ENST00000582892.1:n.319A>T
ENST00000584328.1:n.491A>T
NM_000267.3:c.7014A>T , LRG_214t1:c.7014A>T	NP_000258.1:p.Val2338=
NM_001042492.2:c.7077A>T , LRG_214t2:c.7077A>T	NP_001035957.1:p.Val2359=
XM_005257983.1:c.7077A>T	XP_005258040.1:p.Val2359=
XM_005257984.1:c.7014A>T	XP_005258041.1:p.Val2338=
XM_006721922.1:c.7107A>T	XP_006721985.1:p.Val2369=
XM_006721923.2:c.7068A>T	XP_006721986.1:p.Val2356=
XM_006721924.1:c.7107A>T	XP_006721987.1:p.Val2369=
XM_006721925.1:c.7044A>T	XP_006721988.1:p.Val2348=
XM_006721926.2:c.7107A>T	XP_006721989.1:p.Val2369=
XM_006721927.1:c.7107A>T	XP_006721990.1:p.Val2369=
XM_011524852.1:c.7104A>T	XP_011523154.1:p.Val2368=
XM_011524853.1:c.7068A>T	XP_011523155.1:p.Val2356=
XM_011524854.1:c.7068A>T	XP_011523156.1:p.Val2356=
XM_011524855.1:c.7068A>T	XP_011523157.1:p.Val2356=
XM_011524856.1:c.7068A>T	XP_011523158.1:p.Val2356=
XM_011524857.1:c.7107A>T	XP_011523159.1:p.Val2369=
NM_001042492.3:c.7077A>T MANE Select	NP_001035957.1:p.Val2359=