Canonical Allele Identifier: CA8822072

Gene: RNF213 RNF213-AS1

Linked Data

• ClinVar Variation Id: 417848
• ClinVar RCV Id: RCV000509796
• dbSNP Id: rs778482758
• ExAC: 17:78341886 C / T
• gnomAD v2: 17-78341886-C-T
• gnomAD v3: 17-80368086-C-T
• gnomAD v4: 17-80368086-C-T
• MyVariant Identifiers: chr17:g.78341886C>T (hg19) ; chr17:g.80368086C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80368086C>T , CM000679.2:g.80368086C>T	GRCh38
NC_000017.10:g.78341886C>T , CM000679.1:g.78341886C>T	GRCh37
NC_000017.9:g.75956481C>T	NCBI36
NG_031980.2:g.112226C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000582970.6:c.12098C>T (RNF213) MANE Select	ENSP00000464087.1:p.Pro4033Leu
ENST00000508628.6:c.12245C>T (RNF213)	ENSP00000425956.2:p.Pro4082Leu
ENST00000558116.5:n.1427C>T (RNF213)
ENST00000582970.5:c.12098C>T (RNF213)	ENSP00000464087.1:p.Pro4033Leu
NM_001256071.2:c.12098C>T (RNF213)	NP_001243000.2:p.Pro4033Leu
NR_029376.1:n.241-12798G>A (RNF213-AS1)
XM_005257545.3:c.12245C>T (RNF213)	XP_005257602.2:p.Pro4082Leu
XM_005257546.3:c.12245C>T (RNF213)	XP_005257603.2:p.Pro4082Leu
XM_006721995.2:c.12245C>T (RNF213)	XP_006722058.1:p.Pro4082Leu
XM_011525084.1:c.12245C>T (RNF213)	XP_011523386.1:p.Pro4082Leu
XM_011525085.1:c.12245C>T (RNF213)	XP_011523387.1:p.Pro4082Leu
XM_011525086.1:c.12245C>T (RNF213)	XP_011523388.1:p.Pro4082Leu
XR_243676.3:n.12416C>T (RNF213)
XM_005257545.4:c.12245C>T (RNF213)	XP_005257602.2:p.Pro4082Leu
XM_005257546.4:c.12245C>T (RNF213)	XP_005257603.2:p.Pro4082Leu
XM_006721995.3:c.12245C>T (RNF213)	XP_006722058.1:p.Pro4082Leu
XM_011525084.2:c.12245C>T (RNF213)	XP_011523386.1:p.Pro4082Leu
XM_011525086.2:c.12245C>T (RNF213)	XP_011523388.1:p.Pro4082Leu
XM_017024905.2:c.11240C>T (RNF213)	XP_016880394.1:p.Pro3747Leu
NM_001256071.3:c.12098C>T (RNF213) MANE Select	NP_001243000.2:p.Pro4033Leu