Canonical Allele Identifier: CA130463

Gene: RNF213 RNF213-AS1

Linked Data

• ClinVar Variation Id: 39700
• ClinVar RCV Id: RCV000032902 ; RCV001531872
• dbSNP Id: rs112735431
• ExAC: 17:78358945 G / A
• gnomAD v2: 17-78358945-G-A
• gnomAD v3: 17-80385145-G-A
• gnomAD v4: 17-80385145-G-A
• MyVariant Identifiers: chr17:g.78358945G>A (hg19) ; chr17:g.80385145G>A (hg38)
• PubMed: PMID:21799892 ; PMID:25278557

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80385145G>A , CM000679.2:g.80385145G>A	GRCh38
NC_000017.10:g.78358945G>A , CM000679.1:g.78358945G>A	GRCh37
NC_000017.9:g.75973540G>A	NCBI36
NG_031980.2:g.129285G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582970.6:c.14429G>A (RNF213) MANE Select	ENSP00000464087.1:p.Arg4810Lys
ENST00000411702.7:n.3478G>A (RNF213)
ENST00000427003.7:n.543G>A (RNF213)
ENST00000508628.6:c.14576G>A (RNF213)	ENSP00000425956.2:p.Arg4859Lys
ENST00000570776.1:n.273G>A (RNF213)
ENST00000582970.5:c.14429G>A (RNF213)	ENSP00000464087.1:p.Arg4810Lys
NM_001256071.2:c.14429G>A (RNF213)	NP_001243000.2:p.Arg4810Lys
NR_029376.1:n.240+29784C>T (RNF213-AS1)
XM_005257545.3:c.14576G>A (RNF213)	XP_005257602.2:p.Arg4859Lys
XM_005257546.3:c.14576G>A (RNF213)	XP_005257603.2:p.Arg4859Lys
XM_006721995.2:c.14576G>A (RNF213)	XP_006722058.1:p.Arg4859Lys
XM_011525084.1:c.14470-393G>A (RNF213)	XP_011523386.1:n.14470-393G>A
XM_005257545.4:c.14576G>A (RNF213)	XP_005257602.2:p.Arg4859Lys
XM_005257546.4:c.14576G>A (RNF213)	XP_005257603.2:p.Arg4859Lys
XM_006721995.3:c.14576G>A (RNF213)	XP_006722058.1:p.Arg4859Lys
XM_011525084.2:c.14470-393G>A (RNF213)	XP_011523386.1:n.14470-393G>A
XM_017024905.2:c.13571G>A (RNF213)	XP_016880394.1:p.Arg4524Lys
NM_001256071.3:c.14429G>A (RNF213) MANE Select	NP_001243000.2:p.Arg4810Lys