Canonical Allele Identifier: CA10583501

Gene: NF1

Linked Data

• ClinVar Variation Id: 237561
• ClinVar RCV Id: RCV000228712
• dbSNP Id: rs199474790
• MyVariant Identifiers: chr17:g.29585506A>G (hg19) ; chr17:g.31258488A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31258488A>G , CM000679.2:g.31258488A>G	GRCh38
NC_000017.10:g.29585506A>G , CM000679.1:g.29585506A>G	GRCh37
NC_000017.9:g.26609632A>G	NCBI36
NG_009018.1:g.168512A>G , LRG_214:g.168512A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000581113.7:c.106A>G	ENSP00000492721.2:p.Lys36Glu
ENST00000696138.1:c.4300A>G	ENSP00000512431.1:p.Lys1434Glu
ENST00000696140.1:n.424A>G
ENST00000696141.1:c.309A>G
ENST00000687863.1:n.963A>G
ENST00000691014.1:c.4348A>G	ENSP00000510595.1:p.Lys1450Glu
ENST00000691649.1:n.290A>G
ENST00000358273.9:c.4318A>G MANE Select	ENSP00000351015.4:p.Lys1440Glu
ENST00000356175.7:c.4255A>G	ENSP00000348498.3:p.Lys1419Glu
ENST00000358273.8:c.4318A>G	ENSP00000351015.4:p.Lys1440Glu
ENST00000456735.6:c.3253A>G	ENSP00000389907.2:p.Lys1085Glu
ENST00000466819.5:c.834A>G
ENST00000479614.1:c.771A>G
ENST00000493220.5:n.2791A>G
ENST00000579081.5:c.4357A>G	ENSP00000462408.1:p.Lys1453Glu
NM_000267.3:c.4255A>G , LRG_214t1:c.4255A>G	NP_000258.1:p.Lys1419Glu
NM_001042492.2:c.4318A>G , LRG_214t2:c.4318A>G	NP_001035957.1:p.Lys1440Glu
XM_005257983.1:c.4318A>G	XP_005258040.1:p.Lys1440Glu
XM_005257984.1:c.4255A>G	XP_005258041.1:p.Lys1419Glu
XM_006721922.1:c.4348A>G	XP_006721985.1:p.Lys1450Glu
XM_006721923.2:c.4309A>G	XP_006721986.1:p.Lys1437Glu
XM_006721924.1:c.4348A>G	XP_006721987.1:p.Lys1450Glu
XM_006721925.1:c.4285A>G	XP_006721988.1:p.Lys1429Glu
XM_006721926.2:c.4348A>G	XP_006721989.1:p.Lys1450Glu
XM_006721927.1:c.4348A>G	XP_006721990.1:p.Lys1450Glu
XM_006721928.2:c.4348A>G	XP_006721991.1:p.Lys1450Glu
XM_011524852.1:c.4345A>G	XP_011523154.1:p.Lys1449Glu
XM_011524853.1:c.4309A>G	XP_011523155.1:p.Lys1437Glu
XM_011524854.1:c.4309A>G	XP_011523156.1:p.Lys1437Glu
XM_011524855.1:c.4309A>G	XP_011523157.1:p.Lys1437Glu
XM_011524856.1:c.4309A>G	XP_011523158.1:p.Lys1437Glu
XM_011524857.1:c.4348A>G	XP_011523159.1:p.Lys1450Glu
NM_001042492.3:c.4318A>G MANE Select	NP_001035957.1:p.Lys1440Glu