Canonical Allele Identifier: CA499340570

Gene: NF1

Linked Data

• ClinVar Variation Id: 2728547
• ClinVar RCV Id: RCV003497174
• dbSNP Id: rs2151583207
• MyVariant Identifiers: chr17:g.29684307C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357289C>T , CM000679.2:g.31357289C>T	GRCh38
NC_000017.10:g.29684307C>T , CM000679.1:g.29684307C>T	GRCh37
NC_000017.9:g.26708433C>T	NCBI36
NG_009018.1:g.267313C>T , LRG_214:g.267313C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7872C>T	ENSP00000512431.1:p.Thr2624=
ENST00000684826.1:c.2454C>T	ENSP00000509994.1:p.Thr818=
ENST00000687027.1:c.2046C>T	ENSP00000508715.1:p.Thr682=
ENST00000687863.1:n.4535C>T
ENST00000689464.1:c.940C>T
ENST00000691014.1:c.7920C>T	ENSP00000510595.1:p.Thr2640=
ENST00000693617.1:c.2454C>T	ENSP00000510031.1:p.Thr818=
ENST00000358273.9:c.7890C>T MANE Select	ENSP00000351015.4:p.Thr2630=
ENST00000356175.7:c.7827C>T	ENSP00000348498.3:p.Thr2609=
ENST00000358273.8:c.7890C>T	ENSP00000351015.4:p.Thr2630=
ENST00000456735.6:c.6825C>T	ENSP00000389907.2:p.Thr2275=
ENST00000471572.6:c.1273C>T
ENST00000577967.1:n.1486C>T
ENST00000579081.5:c.8026C>T	ENSP00000462408.1:n.8026C>T
ENST00000581790.5:c.875C>T
NM_000267.3:c.7827C>T , LRG_214t1:c.7827C>T	NP_000258.1:p.Thr2609=
NM_001042492.2:c.7890C>T , LRG_214t2:c.7890C>T	NP_001035957.1:p.Thr2630=
XM_005257983.1:c.7890C>T	XP_005258040.1:p.Thr2630=
XM_005257984.1:c.7827C>T	XP_005258041.1:p.Thr2609=
XM_006721922.1:c.7920C>T	XP_006721985.1:p.Thr2640=
XM_006721923.2:c.7881C>T	XP_006721986.1:p.Thr2627=
XM_006721924.1:c.7920C>T	XP_006721987.1:p.Thr2640=
XM_006721925.1:c.7857C>T	XP_006721988.1:p.Thr2619=
XM_006721926.2:c.7920C>T	XP_006721989.1:p.Thr2640=
XM_006721927.1:c.7920C>T	XP_006721990.1:p.Thr2640=
XM_011524852.1:c.7917C>T	XP_011523154.1:p.Thr2639=
XM_011524853.1:c.7881C>T	XP_011523155.1:p.Thr2627=
XM_011524854.1:c.7881C>T	XP_011523156.1:p.Thr2627=
XM_011524855.1:c.7881C>T	XP_011523157.1:p.Thr2627=
XM_011524856.1:c.7881C>T	XP_011523158.1:p.Thr2627=
XM_011524857.1:c.7797C>T	XP_011523159.1:p.Thr2599=
NM_001042492.3:c.7890C>T MANE Select	NP_001035957.1:p.Thr2630=