Canonical Allele Identifier: CA398984227

Gene: NF1

Linked Data

• ClinVar Variation Id: 457588
• ClinVar RCV Id: RCV000556992 ; RCV001091259
• dbSNP Id: rs1555614229
• MyVariant Identifiers: chr17:g.29556170C>A (hg19) ; chr17:g.31229152C>A (hg38)
• PubMed: PMID:29290338

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229152C>A , CM000679.2:g.31229152C>A	GRCh38
NC_000017.10:g.29556170C>A , CM000679.1:g.29556170C>A	GRCh37
NC_000017.9:g.26580296C>A	NCBI36
NG_009018.1:g.139176C>A , LRG_214:g.139176C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2582C>A	ENSP00000512431.1:p.Ala861Asp
ENST00000691014.1:c.2567C>A	ENSP00000510595.1:p.Ala856Asp
ENST00000358273.9:c.2537C>A MANE Select	ENSP00000351015.4:p.Ala846Asp
ENST00000356175.7:c.2537C>A	ENSP00000348498.3:p.Ala846Asp
ENST00000358273.8:c.2537C>A	ENSP00000351015.4:p.Ala846Asp
ENST00000456735.6:c.1535C>A	ENSP00000389907.2:p.Ala512Asp
ENST00000493220.5:n.704C>A
ENST00000495910.6:c.2312C>A
ENST00000579081.5:c.2639C>A	ENSP00000462408.1:p.Ala880Asp
NM_000267.3:c.2537C>A , LRG_214t1:c.2537C>A	NP_000258.1:p.Ala846Asp
NM_001042492.2:c.2537C>A , LRG_214t2:c.2537C>A	NP_001035957.1:p.Ala846Asp
XM_005257983.1:c.2537C>A	XP_005258040.1:p.Ala846Asp
XM_005257984.1:c.2537C>A	XP_005258041.1:p.Ala846Asp
XM_006721922.1:c.2567C>A	XP_006721985.1:p.Ala856Asp
XM_006721923.2:c.2528C>A	XP_006721986.1:p.Ala843Asp
XM_006721924.1:c.2567C>A	XP_006721987.1:p.Ala856Asp
XM_006721925.1:c.2567C>A	XP_006721988.1:p.Ala856Asp
XM_006721926.2:c.2567C>A	XP_006721989.1:p.Ala856Asp
XM_006721927.1:c.2567C>A	XP_006721990.1:p.Ala856Asp
XM_006721928.2:c.2567C>A	XP_006721991.1:p.Ala856Asp
XM_011524852.1:c.2564C>A	XP_011523154.1:p.Ala855Asp
XM_011524853.1:c.2528C>A	XP_011523155.1:p.Ala843Asp
XM_011524854.1:c.2528C>A	XP_011523156.1:p.Ala843Asp
XM_011524855.1:c.2528C>A	XP_011523157.1:p.Ala843Asp
XM_011524856.1:c.2528C>A	XP_011523158.1:p.Ala843Asp
XM_011524857.1:c.2567C>A	XP_011523159.1:p.Ala856Asp
NM_001042492.3:c.2537C>A MANE Select	NP_001035957.1:p.Ala846Asp