Canonical Allele Identifier: CA399001190

Gene: NF1

Linked Data

• ClinVar Variation Id: 930310
• ClinVar RCV Id: RCV001195872
• dbSNP Id: rs1167129178
• MyVariant Identifiers: chr17:g.29592266G>T (hg19) ; chr17:g.31265248G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31265248G>T , CM000679.2:g.31265248G>T	GRCh38
NC_000017.10:g.29592266G>T , CM000679.1:g.29592266G>T	GRCh37
NC_000017.9:g.26616392G>T	NCBI36
NG_009018.1:g.175272G>T , LRG_214:g.175272G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.546G>T	ENSP00000492721.2:n.546G>T
ENST00000696138.1:c.4726G>T	ENSP00000512431.1:p.Glu1576Ter
ENST00000696140.1:n.850G>T
ENST00000696141.1:c.735G>T
ENST00000687863.1:n.1389G>T
ENST00000691014.1:c.4774G>T	ENSP00000510595.1:p.Glu1592Ter
ENST00000358273.9:c.4744G>T MANE Select	ENSP00000351015.4:p.Glu1582Ter
ENST00000356175.7:c.4681G>T	ENSP00000348498.3:p.Glu1561Ter
ENST00000358273.8:c.4744G>T	ENSP00000351015.4:p.Glu1582Ter
ENST00000456735.6:c.3679G>T	ENSP00000389907.2:p.Glu1227Ter
ENST00000493220.5:n.3217G>T
ENST00000579081.5:c.4783G>T	ENSP00000462408.1:p.Glu1595Ter
NM_000267.3:c.4681G>T , LRG_214t1:c.4681G>T	NP_000258.1:p.Glu1561Ter
NM_001042492.2:c.4744G>T , LRG_214t2:c.4744G>T	NP_001035957.1:p.Glu1582Ter
XM_005257983.1:c.4744G>T	XP_005258040.1:p.Glu1582Ter
XM_005257984.1:c.4681G>T	XP_005258041.1:p.Glu1561Ter
XM_006721922.1:c.4774G>T	XP_006721985.1:p.Glu1592Ter
XM_006721923.2:c.4735G>T	XP_006721986.1:p.Glu1579Ter
XM_006721924.1:c.4774G>T	XP_006721987.1:p.Glu1592Ter
XM_006721925.1:c.4711G>T	XP_006721988.1:p.Glu1571Ter
XM_006721926.2:c.4774G>T	XP_006721989.1:p.Glu1592Ter
XM_006721927.1:c.4774G>T	XP_006721990.1:p.Glu1592Ter
XM_006721928.2:c.4774G>T	XP_006721991.1:p.Glu1592Ter
XM_011524852.1:c.4771G>T	XP_011523154.1:p.Glu1591Ter
XM_011524853.1:c.4735G>T	XP_011523155.1:p.Glu1579Ter
XM_011524854.1:c.4735G>T	XP_011523156.1:p.Glu1579Ter
XM_011524855.1:c.4735G>T	XP_011523157.1:p.Glu1579Ter
XM_011524856.1:c.4735G>T	XP_011523158.1:p.Glu1579Ter
XM_011524857.1:c.4774G>T	XP_011523159.1:p.Glu1592Ter
NM_001042492.3:c.4744G>T MANE Select	NP_001035957.1:p.Glu1582Ter