Canonical Allele Identifier: CA499236858

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29670140A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31343122A>G , CM000679.2:g.31343122A>G	GRCh38
NC_000017.10:g.29670140A>G , CM000679.1:g.29670140A>G	GRCh37
NC_000017.9:g.26694266A>G	NCBI36
NG_009018.1:g.253146A>G , LRG_214:g.253146A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7158A>G	ENSP00000512431.1:p.Gly2386=
ENST00000684826.1:c.1740A>G	ENSP00000509994.1:p.Gly580=
ENST00000687027.1:c.1332A>G	ENSP00000508715.1:p.Gly444=
ENST00000687863.1:n.3821A>G
ENST00000689464.1:c.115A>G
ENST00000691014.1:c.7206A>G	ENSP00000510595.1:p.Gly2402=
ENST00000693617.1:c.1740A>G	ENSP00000510031.1:p.Gly580=
ENST00000358273.9:c.7176A>G MANE Select	ENSP00000351015.4:p.Gly2392=
ENST00000356175.7:c.7113A>G	ENSP00000348498.3:p.Gly2371=
ENST00000358273.8:c.7176A>G	ENSP00000351015.4:p.Gly2392=
ENST00000456735.6:c.6111A>G	ENSP00000389907.2:p.Gly2037=
ENST00000471572.6:c.559A>G
ENST00000579081.5:c.7312A>G	ENSP00000462408.1:n.7312A>G
ENST00000581790.5:c.319A>G
ENST00000582892.1:n.418A>G
NM_000267.3:c.7113A>G , LRG_214t1:c.7113A>G	NP_000258.1:p.Gly2371=
NM_001042492.2:c.7176A>G , LRG_214t2:c.7176A>G	NP_001035957.1:p.Gly2392=
XM_005257983.1:c.7176A>G	XP_005258040.1:p.Gly2392=
XM_005257984.1:c.7113A>G	XP_005258041.1:p.Gly2371=
XM_006721922.1:c.7206A>G	XP_006721985.1:p.Gly2402=
XM_006721923.2:c.7167A>G	XP_006721986.1:p.Gly2389=
XM_006721924.1:c.7206A>G	XP_006721987.1:p.Gly2402=
XM_006721925.1:c.7143A>G	XP_006721988.1:p.Gly2381=
XM_006721926.2:c.7206A>G	XP_006721989.1:p.Gly2402=
XM_006721927.1:c.7206A>G	XP_006721990.1:p.Gly2402=
XM_011524852.1:c.7203A>G	XP_011523154.1:p.Gly2401=
XM_011524853.1:c.7167A>G	XP_011523155.1:p.Gly2389=
XM_011524854.1:c.7167A>G	XP_011523156.1:p.Gly2389=
XM_011524855.1:c.7167A>G	XP_011523157.1:p.Gly2389=
XM_011524856.1:c.7167A>G	XP_011523158.1:p.Gly2389=
XM_011524857.1:c.7206A>G	XP_011523159.1:p.Gly2402=
NM_001042492.3:c.7176A>G MANE Select	NP_001035957.1:p.Gly2392=