Canonical Allele Identifier: CA499340866

Gene: NF1

Linked Data

• dbSNP Id: rs1487656380
• MyVariant Identifiers: chr17:g.29684355C>G (hg19) ; chr17:g.31357337C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31357337C>G , CM000679.2:g.31357337C>G	GRCh38
NC_000017.10:g.29684355C>G , CM000679.1:g.29684355C>G	GRCh37
NC_000017.9:g.26708481C>G	NCBI36
NG_009018.1:g.267361C>G , LRG_214:g.267361C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.7920C>G	ENSP00000512431.1:p.Ala2640=
ENST00000684826.1:c.2502C>G	ENSP00000509994.1:p.Ala834=
ENST00000687027.1:c.2094C>G	ENSP00000508715.1:p.Ala698=
ENST00000687863.1:n.4583C>G
ENST00000689464.1:c.988C>G
ENST00000691014.1:c.7968C>G	ENSP00000510595.1:p.Ala2656=
ENST00000693617.1:c.2502C>G	ENSP00000510031.1:p.Ala834=
ENST00000358273.9:c.7938C>G MANE Select	ENSP00000351015.4:p.Ala2646=
ENST00000356175.7:c.7875C>G	ENSP00000348498.3:p.Ala2625=
ENST00000358273.8:c.7938C>G	ENSP00000351015.4:p.Ala2646=
ENST00000456735.6:c.6873C>G	ENSP00000389907.2:p.Ala2291=
ENST00000471572.6:c.1321C>G
ENST00000577967.1:n.1534C>G
ENST00000579081.5:c.8074C>G	ENSP00000462408.1:n.8074C>G
ENST00000581790.5:c.923C>G
NM_000267.3:c.7875C>G , LRG_214t1:c.7875C>G	NP_000258.1:p.Ala2625=
NM_001042492.2:c.7938C>G , LRG_214t2:c.7938C>G	NP_001035957.1:p.Ala2646=
XM_005257983.1:c.7938C>G	XP_005258040.1:p.Ala2646=
XM_005257984.1:c.7875C>G	XP_005258041.1:p.Ala2625=
XM_006721922.1:c.7968C>G	XP_006721985.1:p.Ala2656=
XM_006721923.2:c.7929C>G	XP_006721986.1:p.Ala2643=
XM_006721924.1:c.7968C>G	XP_006721987.1:p.Ala2656=
XM_006721925.1:c.7905C>G	XP_006721988.1:p.Ala2635=
XM_006721926.2:c.7968C>G	XP_006721989.1:p.Ala2656=
XM_006721927.1:c.7968C>G	XP_006721990.1:p.Ala2656=
XM_011524852.1:c.7965C>G	XP_011523154.1:p.Ala2655=
XM_011524853.1:c.7929C>G	XP_011523155.1:p.Ala2643=
XM_011524854.1:c.7929C>G	XP_011523156.1:p.Ala2643=
XM_011524855.1:c.7929C>G	XP_011523157.1:p.Ala2643=
XM_011524856.1:c.7929C>G	XP_011523158.1:p.Ala2643=
XM_011524857.1:c.7845C>G	XP_011523159.1:p.Ala2615=
NM_001042492.3:c.7938C>G MANE Select	NP_001035957.1:p.Ala2646=