Canonical Allele Identifier: CA499224695

Gene: NF1

Linked Data

• dbSNP Id: rs2143958973
• MyVariant Identifiers: chr17:g.29541492A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31214474A>T , CM000679.2:g.31214474A>T	GRCh38
NC_000017.10:g.29541492A>T , CM000679.1:g.29541492A>T	GRCh37
NC_000017.9:g.26565618A>T	NCBI36
NG_009018.1:g.124498A>T , LRG_214:g.124498A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1461A>T	ENSP00000512431.1:p.Val487=
ENST00000686189.1:c.861A>T	ENSP00000509682.1:p.Val287=
ENST00000691014.1:c.1446A>T	ENSP00000510595.1:p.Val482=
ENST00000358273.9:c.1416A>T MANE Select	ENSP00000351015.4:p.Val472=
ENST00000356175.7:c.1416A>T	ENSP00000348498.3:p.Val472=
ENST00000358273.8:c.1416A>T	ENSP00000351015.4:p.Val472=
ENST00000431387.8:c.1416A>T	ENSP00000412921.4:p.Val472=
ENST00000456735.6:c.414A>T	ENSP00000389907.2:p.Val138=
ENST00000487476.5:n.1799A>T
ENST00000495910.6:c.1191A>T
ENST00000579081.5:c.1518A>T	ENSP00000462408.1:p.Val506=
NM_000267.3:c.1416A>T , LRG_214t1:c.1416A>T	NP_000258.1:p.Val472=
NM_001042492.2:c.1416A>T , LRG_214t2:c.1416A>T	NP_001035957.1:p.Val472=
NM_001128147.2:c.1416A>T	NP_001121619.1:p.Val472=
XM_005257983.1:c.1416A>T	XP_005258040.1:p.Val472=
XM_005257984.1:c.1416A>T	XP_005258041.1:p.Val472=
XM_006721922.1:c.1446A>T	XP_006721985.1:p.Val482=
XM_006721923.2:c.1407A>T	XP_006721986.1:p.Val469=
XM_006721924.1:c.1446A>T	XP_006721987.1:p.Val482=
XM_006721925.1:c.1446A>T	XP_006721988.1:p.Val482=
XM_006721926.2:c.1446A>T	XP_006721989.1:p.Val482=
XM_006721927.1:c.1446A>T	XP_006721990.1:p.Val482=
XM_006721928.2:c.1446A>T	XP_006721991.1:p.Val482=
XM_011524852.1:c.1446A>T	XP_011523154.1:p.Val482=
XM_011524853.1:c.1407A>T	XP_011523155.1:p.Val469=
XM_011524854.1:c.1407A>T	XP_011523156.1:p.Val469=
XM_011524855.1:c.1407A>T	XP_011523157.1:p.Val469=
XM_011524856.1:c.1407A>T	XP_011523158.1:p.Val469=
XM_011524857.1:c.1446A>T	XP_011523159.1:p.Val482=
NM_001042492.3:c.1416A>T MANE Select	NP_001035957.1:p.Val472=
NM_001128147.3:c.1416A>T	NP_001121619.1:p.Val472=