Canonical Allele Identifier: CA499234335

Gene: NF1

Linked Data

• MyVariant Identifiers: chr17:g.29665748T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31338730T>G , CM000679.2:g.31338730T>G	GRCh38
NC_000017.10:g.29665748T>G , CM000679.1:g.29665748T>G	GRCh37
NC_000017.9:g.26689874T>G	NCBI36
NG_009018.1:g.248754T>G , LRG_214:g.248754T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.6828T>G	ENSP00000512431.1:p.Pro2276=
ENST00000684826.1:c.1410T>G	ENSP00000509994.1:p.Pro470=
ENST00000684998.1:n.2668T>G
ENST00000687027.1:c.1002T>G	ENSP00000508715.1:p.Pro334=
ENST00000687863.1:n.3491T>G
ENST00000691014.1:c.6876T>G	ENSP00000510595.1:p.Pro2292=
ENST00000693617.1:c.1410T>G	ENSP00000510031.1:p.Pro470=
ENST00000358273.9:c.6846T>G MANE Select	ENSP00000351015.4:p.Pro2282=
ENST00000356175.7:c.6783T>G	ENSP00000348498.3:p.Pro2261=
ENST00000358273.8:c.6846T>G	ENSP00000351015.4:p.Pro2282=
ENST00000456735.6:c.5781T>G	ENSP00000389907.2:p.Pro1927=
ENST00000471572.6:c.229T>G
ENST00000579081.5:c.6982T>G	ENSP00000462408.1:n.6982T>G
ENST00000581790.5:c.64+850T>G
ENST00000584328.1:n.260T>G
NM_000267.3:c.6783T>G , LRG_214t1:c.6783T>G	NP_000258.1:p.Pro2261=
NM_001042492.2:c.6846T>G , LRG_214t2:c.6846T>G	NP_001035957.1:p.Pro2282=
XM_005257983.1:c.6846T>G	XP_005258040.1:p.Pro2282=
XM_005257984.1:c.6783T>G	XP_005258041.1:p.Pro2261=
XM_006721922.1:c.6876T>G	XP_006721985.1:p.Pro2292=
XM_006721923.2:c.6837T>G	XP_006721986.1:p.Pro2279=
XM_006721924.1:c.6876T>G	XP_006721987.1:p.Pro2292=
XM_006721925.1:c.6813T>G	XP_006721988.1:p.Pro2271=
XM_006721926.2:c.6876T>G	XP_006721989.1:p.Pro2292=
XM_006721927.1:c.6876T>G	XP_006721990.1:p.Pro2292=
XM_011524852.1:c.6873T>G	XP_011523154.1:p.Pro2291=
XM_011524853.1:c.6837T>G	XP_011523155.1:p.Pro2279=
XM_011524854.1:c.6837T>G	XP_011523156.1:p.Pro2279=
XM_011524855.1:c.6837T>G	XP_011523157.1:p.Pro2279=
XM_011524856.1:c.6837T>G	XP_011523158.1:p.Pro2279=
XM_011524857.1:c.6876T>G	XP_011523159.1:p.Pro2292=
NM_001042492.3:c.6846T>G MANE Select	NP_001035957.1:p.Pro2282=