Canonical Allele Identifier: CA401408252

Gene: RNF213 RNF213-AS1

Linked Data

• ClinVar Variation Id: 523426
• ClinVar RCV Id: RCV000626785 ; RCV001197364
• dbSNP Id: rs1555673862
• MyVariant Identifiers: chr17:g.78337499A>G (hg19) ; chr17:g.80363699A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80363699A>G , CM000679.2:g.80363699A>G	GRCh38
NC_000017.10:g.78337499A>G , CM000679.1:g.78337499A>G	GRCh37
NC_000017.9:g.75952094A>G	NCBI36
NG_031980.2:g.107839A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000582970.6:c.11659A>G (RNF213) MANE Select	ENSP00000464087.1:p.Lys3887Glu
ENST00000508628.6:c.11806A>G (RNF213)	ENSP00000425956.2:p.Lys3936Glu
ENST00000558116.5:n.988A>G (RNF213)
ENST00000558488.1:n.347A>G (RNF213)
ENST00000559603.1:n.29A>G (RNF213)
ENST00000582970.5:c.11659A>G (RNF213)	ENSP00000464087.1:p.Lys3887Glu
NM_001256071.2:c.11659A>G (RNF213)	NP_001243000.2:p.Lys3887Glu
NR_029376.1:n.241-8411T>C (RNF213-AS1)
XM_005257545.3:c.11806A>G (RNF213)	XP_005257602.2:p.Lys3936Glu
XM_005257546.3:c.11806A>G (RNF213)	XP_005257603.2:p.Lys3936Glu
XM_006721995.2:c.11806A>G (RNF213)	XP_006722058.1:p.Lys3936Glu
XM_011525084.1:c.11806A>G (RNF213)	XP_011523386.1:p.Lys3936Glu
XM_011525085.1:c.11806A>G (RNF213)	XP_011523387.1:p.Lys3936Glu
XM_011525086.1:c.11806A>G (RNF213)	XP_011523388.1:p.Lys3936Glu
XR_243676.3:n.11977A>G (RNF213)
XM_005257545.4:c.11806A>G (RNF213)	XP_005257602.2:p.Lys3936Glu
XM_005257546.4:c.11806A>G (RNF213)	XP_005257603.2:p.Lys3936Glu
XM_006721995.3:c.11806A>G (RNF213)	XP_006722058.1:p.Lys3936Glu
XM_011525084.2:c.11806A>G (RNF213)	XP_011523386.1:p.Lys3936Glu
XM_011525086.2:c.11806A>G (RNF213)	XP_011523388.1:p.Lys3936Glu
XM_017024905.2:c.10801A>G (RNF213)	XP_016880394.1:p.Lys3601Glu
NM_001256071.3:c.11659A>G (RNF213) MANE Select	NP_001243000.2:p.Lys3887Glu