Canonical Allele Identifier: CA399010474

Gene: NF1

Linked Data

• ClinVar Variation Id: 457763
• ClinVar RCV Id: RCV000551348 ; RCV001726214
• dbSNP Id: rs786202591
• MyVariant Identifiers: chr17:g.29657491G>T (hg19) ; chr17:g.31330473G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31330473G>T , CM000679.2:g.31330473G>T	GRCh38
NC_000017.10:g.29657491G>T , CM000679.1:g.29657491G>T	GRCh37
NC_000017.9:g.26681617G>T	NCBI36
NG_009018.1:g.240497G>T , LRG_214:g.240497G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000581113.7:c.1975G>T	ENSP00000492721.2:n.1975G>T
ENST00000696138.1:c.5769G>T	ENSP00000512431.1:p.Glu1923Asp
ENST00000684826.1:c.351G>T	ENSP00000509994.1:p.Glu117Asp
ENST00000687027.1:c.-58G>T	ENSP00000508715.1:n.-58G>T
ENST00000687863.1:n.2432G>T
ENST00000691014.1:c.5817G>T	ENSP00000510595.1:p.Glu1939Asp
ENST00000693617.1:c.351G>T	ENSP00000510031.1:p.Glu117Asp
ENST00000358273.9:c.5787G>T MANE Select	ENSP00000351015.4:p.Glu1929Asp
ENST00000356175.7:c.5724G>T	ENSP00000348498.3:p.Glu1908Asp
ENST00000358273.8:c.5787G>T	ENSP00000351015.4:p.Glu1929Asp
ENST00000456735.6:c.4722G>T	ENSP00000389907.2:p.Glu1574Asp
ENST00000479536.2:c.145G>T
ENST00000493220.5:n.4260G>T
ENST00000579081.5:c.5923G>T	ENSP00000462408.1:n.5923G>T
ENST00000581113.6:n.1104G>T
NM_000267.3:c.5724G>T , LRG_214t1:c.5724G>T	NP_000258.1:p.Glu1908Asp
NM_001042492.2:c.5787G>T , LRG_214t2:c.5787G>T	NP_001035957.1:p.Glu1929Asp
XM_005257983.1:c.5787G>T	XP_005258040.1:p.Glu1929Asp
XM_005257984.1:c.5724G>T	XP_005258041.1:p.Glu1908Asp
XM_006721922.1:c.5817G>T	XP_006721985.1:p.Glu1939Asp
XM_006721923.2:c.5778G>T	XP_006721986.1:p.Glu1926Asp
XM_006721924.1:c.5817G>T	XP_006721987.1:p.Glu1939Asp
XM_006721925.1:c.5754G>T	XP_006721988.1:p.Glu1918Asp
XM_006721926.2:c.5817G>T	XP_006721989.1:p.Glu1939Asp
XM_006721927.1:c.5817G>T	XP_006721990.1:p.Glu1939Asp
XM_011524852.1:c.5814G>T	XP_011523154.1:p.Glu1938Asp
XM_011524853.1:c.5778G>T	XP_011523155.1:p.Glu1926Asp
XM_011524854.1:c.5778G>T	XP_011523156.1:p.Glu1926Asp
XM_011524855.1:c.5778G>T	XP_011523157.1:p.Glu1926Asp
XM_011524856.1:c.5778G>T	XP_011523158.1:p.Glu1926Asp
XM_011524857.1:c.5817G>T	XP_011523159.1:p.Glu1939Asp
NM_001042492.3:c.5787G>T MANE Select	NP_001035957.1:p.Glu1929Asp