Canonical Allele Identifier: CA10603442

Gene: NF1

Linked Data

• ClinVar Variation Id: 280055
• ClinVar RCV Id: RCV000376782 ; RCV000497042 ; RCV000626642 ; RCV000762986 ; RCV002311233 ; RCV003469215
• dbSNP Id: rs886041347
• gnomAD v4: 17-31229061-C-T
• COSMIC: COSM24444 ; COSM4969033
• MyVariant Identifiers: chr17:g.29556079C>T (hg19) ; chr17:g.31229061C>T (hg38)
• PubMed: PMID:10712197 ; PMID:15146469 ; PMID:16773574 ; PMID:21354044 ; PMID:23668869 ; PMID:26969325 ; PMID:91507397

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31229061C>T , CM000679.2:g.31229061C>T	GRCh38
NC_000017.10:g.29556079C>T , CM000679.1:g.29556079C>T	GRCh37
NC_000017.9:g.26580205C>T	NCBI36
NG_009018.1:g.139085C>T , LRG_214:g.139085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.2491C>T	ENSP00000512431.1:p.Arg831Ter
ENST00000691014.1:c.2476C>T	ENSP00000510595.1:p.Arg826Ter
ENST00000358273.9:c.2446C>T MANE Select	ENSP00000351015.4:p.Arg816Ter
ENST00000356175.7:c.2446C>T	ENSP00000348498.3:p.Arg816Ter
ENST00000358273.8:c.2446C>T	ENSP00000351015.4:p.Arg816Ter
ENST00000456735.6:c.1444C>T	ENSP00000389907.2:p.Arg482Ter
ENST00000493220.5:n.613C>T
ENST00000495910.6:c.2221C>T
ENST00000579081.5:c.2548C>T	ENSP00000462408.1:p.Arg850Ter
NM_000267.3:c.2446C>T , LRG_214t1:c.2446C>T	NP_000258.1:p.Arg816Ter
NM_001042492.2:c.2446C>T , LRG_214t2:c.2446C>T	NP_001035957.1:p.Arg816Ter
XM_005257983.1:c.2446C>T	XP_005258040.1:p.Arg816Ter
XM_005257984.1:c.2446C>T	XP_005258041.1:p.Arg816Ter
XM_006721922.1:c.2476C>T	XP_006721985.1:p.Arg826Ter
XM_006721923.2:c.2437C>T	XP_006721986.1:p.Arg813Ter
XM_006721924.1:c.2476C>T	XP_006721987.1:p.Arg826Ter
XM_006721925.1:c.2476C>T	XP_006721988.1:p.Arg826Ter
XM_006721926.2:c.2476C>T	XP_006721989.1:p.Arg826Ter
XM_006721927.1:c.2476C>T	XP_006721990.1:p.Arg826Ter
XM_006721928.2:c.2476C>T	XP_006721991.1:p.Arg826Ter
XM_011524852.1:c.2473C>T	XP_011523154.1:p.Arg825Ter
XM_011524853.1:c.2437C>T	XP_011523155.1:p.Arg813Ter
XM_011524854.1:c.2437C>T	XP_011523156.1:p.Arg813Ter
XM_011524855.1:c.2437C>T	XP_011523157.1:p.Arg813Ter
XM_011524856.1:c.2437C>T	XP_011523158.1:p.Arg813Ter
XM_011524857.1:c.2476C>T	XP_011523159.1:p.Arg826Ter
NM_001042492.3:c.2446C>T MANE Select	NP_001035957.1:p.Arg816Ter