Canonical Allele Identifier: CA189299

Gene: NF1

Linked Data

• ClinVar Variation Id: 184560
• ClinVar RCV Id: RCV000163833 ; RCV000199777 ; RCV000613914 ; RCV002498812 ; RCV003316009
• dbSNP Id: rs777369021
• ExAC: 17:29527556 T / C
• gnomAD v2: 17-29527556-T-C
• gnomAD v3: 17-31200538-T-C
• gnomAD v4: 17-31200538-T-C
• MyVariant Identifiers: chr17:g.29527556T>C (hg19) ; chr17:g.31200538T>C (hg38)
• PubMed: PMID:17295913

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31200538T>C , CM000679.2:g.31200538T>C	GRCh38
NC_000017.10:g.29527556T>C , CM000679.1:g.29527556T>C	GRCh37
NC_000017.9:g.26551682T>C	NCBI36
NG_009018.1:g.110562T>C , LRG_214:g.110562T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696138.1:c.1005T>C	ENSP00000512431.1:p.Asn335=
ENST00000686189.1:c.420T>C	ENSP00000509682.1:p.Asn140=
ENST00000688507.1:n.711T>C
ENST00000691014.1:c.1005T>C	ENSP00000510595.1:p.Asn335=
ENST00000692326.1:n.847T>C
ENST00000358273.9:c.1005T>C MANE Select	ENSP00000351015.4:p.Asn335=
ENST00000356175.7:c.1005T>C	ENSP00000348498.3:p.Asn335=
ENST00000358273.8:c.1005T>C	ENSP00000351015.4:p.Asn335=
ENST00000431387.8:c.1005T>C	ENSP00000412921.4:p.Asn335=
ENST00000456735.6:c.3T>C	ENSP00000389907.2:p.Asn1=
ENST00000487476.5:n.1388T>C
ENST00000495910.6:c.780T>C
ENST00000579081.5:c.1107T>C	ENSP00000462408.1:p.Asn369=
NM_000267.3:c.1005T>C , LRG_214t1:c.1005T>C	NP_000258.1:p.Asn335=
NM_001042492.2:c.1005T>C , LRG_214t2:c.1005T>C	NP_001035957.1:p.Asn335=
NM_001128147.2:c.1005T>C	NP_001121619.1:p.Asn335=
XM_005257983.1:c.1005T>C	XP_005258040.1:p.Asn335=
XM_005257984.1:c.1005T>C	XP_005258041.1:p.Asn335=
XM_006721922.1:c.1005T>C	XP_006721985.1:p.Asn335=
XM_006721923.2:c.966T>C	XP_006721986.1:p.Asn322=
XM_006721924.1:c.1005T>C	XP_006721987.1:p.Asn335=
XM_006721925.1:c.1005T>C	XP_006721988.1:p.Asn335=
XM_006721926.2:c.1005T>C	XP_006721989.1:p.Asn335=
XM_006721927.1:c.1005T>C	XP_006721990.1:p.Asn335=
XM_006721928.2:c.1005T>C	XP_006721991.1:p.Asn335=
XM_011524852.1:c.1005T>C	XP_011523154.1:p.Asn335=
XM_011524853.1:c.966T>C	XP_011523155.1:p.Asn322=
XM_011524854.1:c.966T>C	XP_011523156.1:p.Asn322=
XM_011524855.1:c.966T>C	XP_011523157.1:p.Asn322=
XM_011524856.1:c.966T>C	XP_011523158.1:p.Asn322=
XM_011524857.1:c.1005T>C	XP_011523159.1:p.Asn335=
NM_001042492.3:c.1005T>C MANE Select	NP_001035957.1:p.Asn335=
NM_001128147.3:c.1005T>C	NP_001121619.1:p.Asn335=