Canonical Allele Identifier: CA167012

Gene: NF1

Linked Data

• ClinVar Variation Id: 141982
• ClinVar RCV Id: RCV000204985 ; RCV000708723 ; RCV000765345 ; RCV000680982 ; RCV000845190 ; RCV001121969 ; RCV001121971 ; RCV001121970 ; RCV002326845
• dbSNP Id: rs149739570
• ExAC: 17:29528158 A / G
• gnomAD v2: 17-29528158-A-G
• gnomAD v3: 17-31201140-A-G
• gnomAD v4: 17-31201140-A-G
• MyVariant Identifiers: chr17:g.29528158A>G (hg19) ; chr17:g.31201140A>G (hg38)
• PubMed: PMID:1770531 ; PMID:6025371 ; PMID:9375928 ; PMID:10726756 ; PMID:15221447 ; PMID:16542390 ; PMID:16786042 ; PMID:16835897 ; PMID:17105749 ; PMID:17369502 ; PMID:18172006 ; PMID:19117870 ; PMID:19539839 ; PMID:19920235 ; PMID:20142468 ; PMID:21089071 ; PMID:22041710 ; PMID:22429592 ; PMID:22604720 ; PMID:23047742 ; PMID:23165953 ; PMID:23244495 ; PMID:23354915 ; PMID:23656349 ; PMID:23812910 ; PMID:24219125 ; PMID:25324428 ; PMID:25325900 ; PMID:25951773 ; PMID:26178382 ; PMID:26758488 ; PMID:27170677 ; PMID:27322474 ; PMID:28213670

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31201140A>G , CM000679.2:g.31201140A>G	GRCh38
NC_000017.10:g.29528158A>G , CM000679.1:g.29528158A>G	GRCh37
NC_000017.9:g.26552284A>G	NCBI36
NG_009018.1:g.111164A>G , LRG_214:g.111164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1166A>G	ENSP00000512431.1:p.His389Arg
ENST00000686189.1:c.581A>G	ENSP00000509682.1:p.His194Arg
ENST00000688507.1:n.872A>G
ENST00000691014.1:c.1166A>G	ENSP00000510595.1:p.His389Arg
ENST00000692326.1:n.1449A>G
ENST00000358273.9:c.1166A>G MANE Select	ENSP00000351015.4:p.His389Arg
ENST00000356175.7:c.1166A>G	ENSP00000348498.3:p.His389Arg
ENST00000358273.8:c.1166A>G	ENSP00000351015.4:p.His389Arg
ENST00000431387.8:c.1166A>G	ENSP00000412921.4:p.His389Arg
ENST00000456735.6:c.164A>G	ENSP00000389907.2:p.His55Arg
ENST00000487476.5:n.1549A>G
ENST00000495910.6:c.941A>G
ENST00000579081.5:c.1268A>G	ENSP00000462408.1:p.His423Arg
NM_000267.3:c.1166A>G , LRG_214t1:c.1166A>G	NP_000258.1:p.His389Arg
NM_001042492.2:c.1166A>G , LRG_214t2:c.1166A>G	NP_001035957.1:p.His389Arg
NM_001128147.2:c.1166A>G	NP_001121619.1:p.His389Arg
XM_005257983.1:c.1166A>G	XP_005258040.1:p.His389Arg
XM_005257984.1:c.1166A>G	XP_005258041.1:p.His389Arg
XM_006721922.1:c.1166A>G	XP_006721985.1:p.His389Arg
XM_006721923.2:c.1127A>G	XP_006721986.1:p.His376Arg
XM_006721924.1:c.1166A>G	XP_006721987.1:p.His389Arg
XM_006721925.1:c.1166A>G	XP_006721988.1:p.His389Arg
XM_006721926.2:c.1166A>G	XP_006721989.1:p.His389Arg
XM_006721927.1:c.1166A>G	XP_006721990.1:p.His389Arg
XM_006721928.2:c.1166A>G	XP_006721991.1:p.His389Arg
XM_011524852.1:c.1166A>G	XP_011523154.1:p.His389Arg
XM_011524853.1:c.1127A>G	XP_011523155.1:p.His376Arg
XM_011524854.1:c.1127A>G	XP_011523156.1:p.His376Arg
XM_011524855.1:c.1127A>G	XP_011523157.1:p.His376Arg
XM_011524856.1:c.1127A>G	XP_011523158.1:p.His376Arg
XM_011524857.1:c.1166A>G	XP_011523159.1:p.His389Arg
NM_001042492.3:c.1166A>G MANE Select	NP_001035957.1:p.His389Arg
NM_001128147.3:c.1166A>G	NP_001121619.1:p.His389Arg