Canonical Allele Identifier: CA214568

Gene: RNF43

Linked Data

• ClinVar Variation Id: 190226
• ClinVar RCV Id: RCV000170445 ; RCV000240616
• dbSNP Id: rs786205215
• gnomAD v4: 17-58363582-G-A
• COSMIC: COSM981870
• MyVariant Identifiers: chr17:g.56440943G>A (hg19) ; chr17:g.58363582G>A (hg38)
• PubMed: PMID:22552244 ; PMID:27081527

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58363582G>A , CM000679.2:g.58363582G>A	GRCh38
NC_000017.10:g.56440943G>A , CM000679.1:g.56440943G>A	GRCh37
NC_000017.9:g.53795942G>A	NCBI36
NG_042894.1:g.59001C>T , LRG_1026:g.59001C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000407977.7:c.394C>T MANE Select	ENSP00000385328.2:p.Arg132Ter
ENST00000648873.1:c.394C>T	ENSP00000497686.1:p.Arg132Ter
ENST00000407977.6:c.394C>T	ENSP00000385328.2:p.Arg132Ter
ENST00000577625.5:c.13C>T	ENSP00000463716.1:p.Arg5Ter
ENST00000577716.5:c.394C>T	ENSP00000462764.1:p.Arg132Ter
ENST00000581868.1:c.13C>T	ENSP00000462447.1:p.Arg5Ter
ENST00000582293.1:n.11C>T
ENST00000583753.5:c.271C>T	ENSP00000462502.1:p.Arg91Ter
ENST00000584437.5:c.394C>T	ENSP00000463069.1:p.Arg132Ter
NM_001305544.1:c.394C>T	NP_001292473.1:p.Arg132Ter
NM_001305545.1:c.13C>T	NP_001292474.1:p.Arg5Ter
NM_017763.4:c.394C>T	NP_060233.3:p.Arg132Ter
NM_017763.5:c.394C>T , LRG_1026t1:c.394C>T	NP_060233.3:p.Arg132Ter
XM_011524954.1:c.394C>T	XP_011523256.1:p.Arg132Ter
XM_011524955.1:c.394C>T	XP_011523257.1:p.Arg132Ter
XM_011524956.1:c.13C>T	XP_011523258.1:p.Arg5Ter
XM_011524955.3:c.394C>T	XP_011523257.1:p.Arg132Ter
XM_011524956.3:c.13C>T	XP_011523258.1:p.Arg5Ter
XM_017024800.2:c.394C>T	XP_016880289.1:p.Arg132Ter
NM_001305544.2:c.394C>T	NP_001292473.1:p.Arg132Ter
NM_017763.6:c.394C>T MANE Select	NP_060233.3:p.Arg132Ter