Canonical Allele Identifier: CA8819301

Gene: RNF213

Linked Data

• ClinVar Variation Id: 417837
• ClinVar RCV Id: RCV000509967 ; RCV000898359
• dbSNP Id: rs144769597
• ExAC: 17:78261978 T / A
• gnomAD v2: 17-78261978-T-A
• gnomAD v3: 17-80288179-T-A
• gnomAD v4: 17-80288179-T-A
• MyVariant Identifiers: chr17:g.78261978T>A (hg19) ; chr17:g.80288179T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80288179T>A , CM000679.2:g.80288179T>A	GRCh38
NC_000017.10:g.78261978T>A , CM000679.1:g.78261978T>A	GRCh37
NC_000017.9:g.75876573T>A	NCBI36
NG_031980.2:g.32319T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000582970.6:c.626T>A MANE Select	ENSP00000464087.1:p.Ile209Asn
ENST00000319921.4:c.626T>A	ENSP00000324392.4:p.Ile209Asn
ENST00000508628.6:c.773T>A	ENSP00000425956.2:p.Ile258Asn
ENST00000559070.5:n.221T>A
ENST00000582970.5:c.626T>A	ENSP00000464087.1:p.Ile209Asn
NM_001256071.2:c.626T>A	NP_001243000.2:p.Ile209Asn
NM_020954.3:c.626T>A	NP_066005.2:p.Ile209Asn
XM_005257545.3:c.773T>A	XP_005257602.2:p.Ile258Asn
XM_005257546.3:c.773T>A	XP_005257603.2:p.Ile258Asn
XM_006721995.2:c.773T>A	XP_006722058.1:p.Ile258Asn
XM_011525084.1:c.773T>A	XP_011523386.1:p.Ile258Asn
XM_011525085.1:c.773T>A	XP_011523387.1:p.Ile258Asn
XM_011525086.1:c.773T>A	XP_011523388.1:p.Ile258Asn
XM_011525087.1:c.773T>A	XP_011523389.1:p.Ile258Asn
XR_243676.3:n.944T>A
XM_005257545.4:c.773T>A	XP_005257602.2:p.Ile258Asn
XM_005257546.4:c.773T>A	XP_005257603.2:p.Ile258Asn
XM_006721995.3:c.773T>A	XP_006722058.1:p.Ile258Asn
XM_011525084.2:c.773T>A	XP_011523386.1:p.Ile258Asn
XM_011525086.2:c.773T>A	XP_011523388.1:p.Ile258Asn
XM_011525087.3:c.773T>A	XP_011523389.1:p.Ile258Asn
NM_001256071.3:c.626T>A MANE Select	NP_001243000.2:p.Ile209Asn
NM_020954.4:c.626T>A	NP_066005.2:p.Ile209Asn