Canonical Allele Identifier: CA8673319
Gene: RNF43 HGNC NCBI
COSMIC:
COSM5983422 (not active)
MyVariant.info:
GRCh38 chr17:g.58360940G>A
GRCh37 chr17:g.56438301G>A
Revel Score:
ENST00000407977 (MANE Select) 0.140
ENST00000500597 0.140
gnomAD v2:
17:56438301 G / A
gnomAD v3:
17:58360940 G / A
gnomAD v4:
chr17-58360940-G-A
Joint Max Group AF 0.19763426 (NFE)
Genomes Max Group AF 0.19526537 (NFE)
Exomes Max Group AF 0.19762886 (NFE)
ClinVar Allele:
1158061
ClinVar RCV:
RCV001514722
RCV003983932
ClinVar Variation:
1166451
dbSNP:
2680701
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58360940G>A , CM000679.2:g.58360940G>A GRCh38
NC_000017.10:g.56438301G>A , CM000679.1:g.56438301G>A GRCh37
NC_000017.9:g.53793300G>A NCBI36
NG_042894.1:g.61643C>T , LRG_1026:g.61643C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000407977.7:c.692C>T MANE Select ENSP00000385328.2:p.Pro231Leu
ENST00000648873.1:c.692C>T ENSP00000497686.1:p.Pro231Leu
ENST00000407977.6:c.692C>T ENSP00000385328.2:p.Pro231Leu
ENST00000577625.5:c.311C>T ENSP00000463716.1:p.Pro104Leu
ENST00000577716.5:c.692C>T ENSP00000462764.1:p.Pro231Leu
ENST00000581868.1:c.311C>T ENSP00000462447.1:p.Pro104Leu
ENST00000583753.5:c.569C>T ENSP00000462502.1:p.Pro190Leu
ENST00000584437.5:c.692C>T ENSP00000463069.1:p.Pro231Leu
NM_001305544.1:c.692C>T NP_001292473.1:p.Pro231Leu
NM_001305545.1:c.311C>T NP_001292474.1:p.Pro104Leu
NM_017763.4:c.692C>T NP_060233.3:p.Pro231Leu
NM_017763.5:c.692C>T , LRG_1026t1:c.692C>T NP_060233.3:p.Pro231Leu
XM_011524954.1:c.692C>T XP_011523256.1:p.Pro231Leu
XM_011524955.1:c.692C>T XP_011523257.1:p.Pro231Leu
XM_011524956.1:c.311C>T XP_011523258.1:p.Pro104Leu
XM_011524955.3:c.692C>T XP_011523257.1:p.Pro231Leu
XM_011524956.3:c.311C>T XP_011523258.1:p.Pro104Leu
XM_017024800.2:c.692C>T XP_016880289.1:p.Pro231Leu
NM_001305544.2:c.692C>T NP_001292473.1:p.Pro231Leu
NM_017763.6:c.692C>T MANE Select NP_060233.3:p.Pro231Leu
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