Canonical Allele Identifier: CA399001174

Gene: NF1

Linked Data

• ClinVar Variation Id: 976344
• ClinVar RCV Id: RCV001253616
• dbSNP Id: rs2067764827
• MyVariant Identifiers: chr17:g.29592260G>T (hg19) ; chr17:g.31265242G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265242G>T , CM000679.2:g.31265242G>T	GRCh38
NC_000017.10:g.29592260G>T , CM000679.1:g.29592260G>T	GRCh37
NC_000017.9:g.26616386G>T	NCBI36
NG_009018.1:g.175266G>T , LRG_214:g.175266G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.540G>T	ENSP00000492721.2:n.540G>T
ENST00000696138.1:c.4720G>T	ENSP00000512431.1:p.Glu1574Ter
ENST00000696140.1:n.844G>T
ENST00000696141.1:c.729G>T
ENST00000687863.1:n.1383G>T
ENST00000691014.1:c.4768G>T	ENSP00000510595.1:p.Glu1590Ter
ENST00000358273.9:c.4738G>T MANE Select	ENSP00000351015.4:p.Glu1580Ter
ENST00000356175.7:c.4675G>T	ENSP00000348498.3:p.Glu1559Ter
ENST00000358273.8:c.4738G>T	ENSP00000351015.4:p.Glu1580Ter
ENST00000456735.6:c.3673G>T	ENSP00000389907.2:p.Glu1225Ter
ENST00000493220.5:n.3211G>T
ENST00000579081.5:c.4777G>T	ENSP00000462408.1:p.Glu1593Ter
NM_000267.3:c.4675G>T , LRG_214t1:c.4675G>T	NP_000258.1:p.Glu1559Ter
NM_001042492.2:c.4738G>T , LRG_214t2:c.4738G>T	NP_001035957.1:p.Glu1580Ter
XM_005257983.1:c.4738G>T	XP_005258040.1:p.Glu1580Ter
XM_005257984.1:c.4675G>T	XP_005258041.1:p.Glu1559Ter
XM_006721922.1:c.4768G>T	XP_006721985.1:p.Glu1590Ter
XM_006721923.2:c.4729G>T	XP_006721986.1:p.Glu1577Ter
XM_006721924.1:c.4768G>T	XP_006721987.1:p.Glu1590Ter
XM_006721925.1:c.4705G>T	XP_006721988.1:p.Glu1569Ter
XM_006721926.2:c.4768G>T	XP_006721989.1:p.Glu1590Ter
XM_006721927.1:c.4768G>T	XP_006721990.1:p.Glu1590Ter
XM_006721928.2:c.4768G>T	XP_006721991.1:p.Glu1590Ter
XM_011524852.1:c.4765G>T	XP_011523154.1:p.Glu1589Ter
XM_011524853.1:c.4729G>T	XP_011523155.1:p.Glu1577Ter
XM_011524854.1:c.4729G>T	XP_011523156.1:p.Glu1577Ter
XM_011524855.1:c.4729G>T	XP_011523157.1:p.Glu1577Ter
XM_011524856.1:c.4729G>T	XP_011523158.1:p.Glu1577Ter
XM_011524857.1:c.4768G>T	XP_011523159.1:p.Glu1590Ter
NM_001042492.3:c.4738G>T MANE Select	NP_001035957.1:p.Glu1580Ter