Canonical Allele Identifier: CA8822321

Gene: RNF213 RNF213-AS1

Linked Data

• ClinVar Variation Id: 438786
• ClinVar RCV Id: RCV000505602
• dbSNP Id: rs765980348
• ExAC: 17:78346864 C / T
• gnomAD v2: 17-78346864-C-T
• gnomAD v3: 17-80373064-C-T
• gnomAD v4: 17-80373064-C-T
• COSMIC: COSM5702610 ; COSM5702611
• MyVariant Identifiers: chr17:g.78346864C>T (hg19) ; chr17:g.80373064C>T (hg38)
• PubMed: PMID:26822237

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80373064C>T , CM000679.2:g.80373064C>T	GRCh38
NC_000017.10:g.78346864C>T , CM000679.1:g.78346864C>T	GRCh37
NC_000017.9:g.75961459C>T	NCBI36
NG_031980.2:g.117204C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000582970.6:c.12841C>T (RNF213) MANE Select	ENSP00000464087.1:p.Arg4281Trp
ENST00000411702.7:n.639C>T (RNF213)
ENST00000508628.6:c.12988C>T (RNF213)	ENSP00000425956.2:p.Arg4330Trp
ENST00000558116.5:n.2170C>T (RNF213)
ENST00000582970.5:c.12841C>T (RNF213)	ENSP00000464087.1:p.Arg4281Trp
NM_001256071.2:c.12841C>T (RNF213)	NP_001243000.2:p.Arg4281Trp
NR_029376.1:n.241-17776G>A (RNF213-AS1)
XM_005257545.3:c.12988C>T (RNF213)	XP_005257602.2:p.Arg4330Trp
XM_005257546.3:c.12988C>T (RNF213)	XP_005257603.2:p.Arg4330Trp
XM_006721995.2:c.12988C>T (RNF213)	XP_006722058.1:p.Arg4330Trp
XM_011525084.1:c.12988C>T (RNF213)	XP_011523386.1:p.Arg4330Trp
XM_011525085.1:c.12988C>T (RNF213)	XP_011523387.1:p.Arg4330Trp
XR_243676.3:n.13159C>T (RNF213)
XM_005257545.4:c.12988C>T (RNF213)	XP_005257602.2:p.Arg4330Trp
XM_005257546.4:c.12988C>T (RNF213)	XP_005257603.2:p.Arg4330Trp
XM_006721995.3:c.12988C>T (RNF213)	XP_006722058.1:p.Arg4330Trp
XM_011525084.2:c.12988C>T (RNF213)	XP_011523386.1:p.Arg4330Trp
XM_017024905.2:c.11983C>T (RNF213)	XP_016880394.1:p.Arg3995Trp
NM_001256071.3:c.12841C>T (RNF213) MANE Select	NP_001243000.2:p.Arg4281Trp