Canonical Allele Identifier: CA399001513

Gene: NF1

Linked Data

• ClinVar Variation Id: 1690366
• ClinVar RCV Id: RCV002251836 ; RCV002391379
• dbSNP Id: rs2143959211
• MyVariant Identifiers: chr17:g.29541514A>T (hg19) ; chr17:g.31214496A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31214496A>T , CM000679.2:g.31214496A>T	GRCh38
NC_000017.10:g.29541514A>T , CM000679.1:g.29541514A>T	GRCh37
NC_000017.9:g.26565640A>T	NCBI36
NG_009018.1:g.124520A>T , LRG_214:g.124520A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1483A>T	ENSP00000512431.1:p.Lys495Ter
ENST00000686189.1:c.883A>T	ENSP00000509682.1:p.Lys295Ter
ENST00000691014.1:c.1468A>T	ENSP00000510595.1:p.Lys490Ter
ENST00000358273.9:c.1438A>T MANE Select	ENSP00000351015.4:p.Lys480Ter
ENST00000356175.7:c.1438A>T	ENSP00000348498.3:p.Lys480Ter
ENST00000358273.8:c.1438A>T	ENSP00000351015.4:p.Lys480Ter
ENST00000431387.8:c.1438A>T	ENSP00000412921.4:p.Lys480Ter
ENST00000456735.6:c.436A>T	ENSP00000389907.2:p.Lys146Ter
ENST00000487476.5:n.1821A>T
ENST00000495910.6:c.1213A>T
ENST00000579081.5:c.1540A>T	ENSP00000462408.1:p.Lys514Ter
NM_000267.3:c.1438A>T , LRG_214t1:c.1438A>T	NP_000258.1:p.Lys480Ter
NM_001042492.2:c.1438A>T , LRG_214t2:c.1438A>T	NP_001035957.1:p.Lys480Ter
NM_001128147.2:c.1438A>T	NP_001121619.1:p.Lys480Ter
XM_005257983.1:c.1438A>T	XP_005258040.1:p.Lys480Ter
XM_005257984.1:c.1438A>T	XP_005258041.1:p.Lys480Ter
XM_006721922.1:c.1468A>T	XP_006721985.1:p.Lys490Ter
XM_006721923.2:c.1429A>T	XP_006721986.1:p.Lys477Ter
XM_006721924.1:c.1468A>T	XP_006721987.1:p.Lys490Ter
XM_006721925.1:c.1468A>T	XP_006721988.1:p.Lys490Ter
XM_006721926.2:c.1468A>T	XP_006721989.1:p.Lys490Ter
XM_006721927.1:c.1468A>T	XP_006721990.1:p.Lys490Ter
XM_006721928.2:c.1468A>T	XP_006721991.1:p.Lys490Ter
XM_011524852.1:c.1468A>T	XP_011523154.1:p.Lys490Ter
XM_011524853.1:c.1429A>T	XP_011523155.1:p.Lys477Ter
XM_011524854.1:c.1429A>T	XP_011523156.1:p.Lys477Ter
XM_011524855.1:c.1429A>T	XP_011523157.1:p.Lys477Ter
XM_011524856.1:c.1429A>T	XP_011523158.1:p.Lys477Ter
XM_011524857.1:c.1468A>T	XP_011523159.1:p.Lys490Ter
NM_001042492.3:c.1438A>T MANE Select	NP_001035957.1:p.Lys480Ter
NM_001128147.3:c.1438A>T	NP_001121619.1:p.Lys480Ter