Canonical Allele Identifier: CA401409210

Gene: RNF213 RNF213-AS1

Linked Data

• ClinVar Variation Id: 417847
• ClinVar RCV Id: RCV000510117
• dbSNP Id: rs1555675572
• MyVariant Identifiers: chr17:g.78341882T>C (hg19) ; chr17:g.80368082T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80368082T>C , CM000679.2:g.80368082T>C	GRCh38
NC_000017.10:g.78341882T>C , CM000679.1:g.78341882T>C	GRCh37
NC_000017.9:g.75956477T>C	NCBI36
NG_031980.2:g.112222T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000582970.6:c.12094T>C (RNF213) MANE Select	ENSP00000464087.1:p.Cys4032Arg
ENST00000508628.6:c.12241T>C (RNF213)	ENSP00000425956.2:p.Cys4081Arg
ENST00000558116.5:n.1423T>C (RNF213)
ENST00000582970.5:c.12094T>C (RNF213)	ENSP00000464087.1:p.Cys4032Arg
NM_001256071.2:c.12094T>C (RNF213)	NP_001243000.2:p.Cys4032Arg
NR_029376.1:n.241-12794A>G (RNF213-AS1)
XM_005257545.3:c.12241T>C (RNF213)	XP_005257602.2:p.Cys4081Arg
XM_005257546.3:c.12241T>C (RNF213)	XP_005257603.2:p.Cys4081Arg
XM_006721995.2:c.12241T>C (RNF213)	XP_006722058.1:p.Cys4081Arg
XM_011525084.1:c.12241T>C (RNF213)	XP_011523386.1:p.Cys4081Arg
XM_011525085.1:c.12241T>C (RNF213)	XP_011523387.1:p.Cys4081Arg
XM_011525086.1:c.12241T>C (RNF213)	XP_011523388.1:p.Cys4081Arg
XR_243676.3:n.12412T>C (RNF213)
XM_005257545.4:c.12241T>C (RNF213)	XP_005257602.2:p.Cys4081Arg
XM_005257546.4:c.12241T>C (RNF213)	XP_005257603.2:p.Cys4081Arg
XM_006721995.3:c.12241T>C (RNF213)	XP_006722058.1:p.Cys4081Arg
XM_011525084.2:c.12241T>C (RNF213)	XP_011523386.1:p.Cys4081Arg
XM_011525086.2:c.12241T>C (RNF213)	XP_011523388.1:p.Cys4081Arg
XM_017024905.2:c.11236T>C (RNF213)	XP_016880394.1:p.Cys3746Arg
NM_001256071.3:c.12094T>C (RNF213) MANE Select	NP_001243000.2:p.Cys4032Arg