Canonical Allele Identifier: CA398990520

Gene: NF1

Linked Data

• ClinVar Variation Id: 1733697
• ClinVar RCV Id: RCV002452571
• dbSNP Id: rs747780947
• MyVariant Identifiers: chr17:g.29560184C>T (hg19) ; chr17:g.31233166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31233166C>T , CM000679.2:g.31233166C>T	GRCh38
NC_000017.10:g.29560184C>T , CM000679.1:g.29560184C>T	GRCh37
NC_000017.9:g.26584310C>T	NCBI36
NG_009018.1:g.143190C>T , LRG_214:g.143190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.3706C>T	ENSP00000512431.1:p.Leu1236Phe
ENST00000696139.1:c.1006C>T	ENSP00000512432.1:p.Leu336Phe
ENST00000691014.1:c.3691C>T	ENSP00000510595.1:p.Leu1231Phe
ENST00000693210.1:n.387C>T
ENST00000358273.9:c.3661C>T MANE Select	ENSP00000351015.4:p.Leu1221Phe
ENST00000356175.7:c.3661C>T	ENSP00000348498.3:p.Leu1221Phe
ENST00000358273.8:c.3661C>T	ENSP00000351015.4:p.Leu1221Phe
ENST00000456735.6:c.2659C>T	ENSP00000389907.2:p.Leu887Phe
ENST00000466819.5:c.137C>T
ENST00000479614.1:c.137C>T
ENST00000493220.5:n.2197C>T
ENST00000495910.6:c.3436C>T
ENST00000579081.5:c.3763C>T	ENSP00000462408.1:p.Leu1255Phe
NM_000267.3:c.3661C>T , LRG_214t1:c.3661C>T	NP_000258.1:p.Leu1221Phe
NM_001042492.2:c.3661C>T , LRG_214t2:c.3661C>T	NP_001035957.1:p.Leu1221Phe
XM_005257983.1:c.3661C>T	XP_005258040.1:p.Leu1221Phe
XM_005257984.1:c.3661C>T	XP_005258041.1:p.Leu1221Phe
XM_006721922.1:c.3691C>T	XP_006721985.1:p.Leu1231Phe
XM_006721923.2:c.3652C>T	XP_006721986.1:p.Leu1218Phe
XM_006721924.1:c.3691C>T	XP_006721987.1:p.Leu1231Phe
XM_006721925.1:c.3691C>T	XP_006721988.1:p.Leu1231Phe
XM_006721926.2:c.3691C>T	XP_006721989.1:p.Leu1231Phe
XM_006721927.1:c.3691C>T	XP_006721990.1:p.Leu1231Phe
XM_006721928.2:c.3691C>T	XP_006721991.1:p.Leu1231Phe
XM_011524852.1:c.3688C>T	XP_011523154.1:p.Leu1230Phe
XM_011524853.1:c.3652C>T	XP_011523155.1:p.Leu1218Phe
XM_011524854.1:c.3652C>T	XP_011523156.1:p.Leu1218Phe
XM_011524855.1:c.3652C>T	XP_011523157.1:p.Leu1218Phe
XM_011524856.1:c.3652C>T	XP_011523158.1:p.Leu1218Phe
XM_011524857.1:c.3691C>T	XP_011523159.1:p.Leu1231Phe
NM_001042492.3:c.3661C>T MANE Select	NP_001035957.1:p.Leu1221Phe