Canonical Allele Identifier: CA8673461
Gene: RNF43 HGNC NCBI
COSMIC:
COSM3755721 (not active)
MyVariant.info:
GRCh38 chr17:g.58370936C>T
GRCh37 chr17:g.56448297C>T
GRCh37 chr17:g.56448297_56448298delinsTG
Revel Score:
ENST00000407977 (MANE Select) 0.136
gnomAD v2:
17:56448297 C / T
gnomAD v3:
17:58370936 C / T
gnomAD v4:
chr17-58370936-C-T
Joint Max Group AF 0.35191815 (EAS)
Genomes Max Group AF 0.35978216 (EAS)
Exomes Max Group AF 0.3494148 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58370936C>T , CM000679.2:g.58370936C>T GRCh38
NC_000017.10:g.56448297C>T , CM000679.1:g.56448297C>T GRCh37
NC_000017.9:g.53803296C>T NCBI36
NG_042894.1:g.51647G>A , LRG_1026:g.51647G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000407977.7:c.350G>A MANE Select ENSP00000385328.2:p.Arg117His
ENST00000648873.1:c.350G>A ENSP00000497686.1:p.Arg117His
ENST00000407977.6:c.350G>A ENSP00000385328.2:p.Arg117His
ENST00000577625.5:c.-32G>A ENSP00000463716.1:n.-32G>A
ENST00000577716.5:c.350G>A ENSP00000462764.1:p.Arg117His
ENST00000581868.1:c.-32G>A ENSP00000462447.1:n.-32G>A
ENST00000583753.5:c.253-7336G>A ENSP00000462502.1:n.253-7336G>A
ENST00000584437.5:c.350G>A ENSP00000463069.1:p.Arg117His
NM_001305544.1:c.350G>A NP_001292473.1:p.Arg117His
NM_001305545.1:c.-32G>A NP_001292474.1:n.-32G>A
NM_017763.4:c.350G>A NP_060233.3:p.Arg117His
NM_017763.5:c.350G>A , LRG_1026t1:c.350G>A NP_060233.3:p.Arg117His
XM_011524954.1:c.350G>A XP_011523256.1:p.Arg117His
XM_011524955.1:c.350G>A XP_011523257.1:p.Arg117His
XM_011524956.1:c.-32G>A XP_011523258.1:n.-32G>A
XM_011524955.3:c.350G>A XP_011523257.1:p.Arg117His
XM_011524956.3:c.-32G>A XP_011523258.1:n.-32G>A
XM_017024800.2:c.350G>A XP_016880289.1:p.Arg117His
NM_001305544.2:c.350G>A NP_001292473.1:p.Arg117His
NM_017763.6:c.350G>A MANE Select NP_060233.3:p.Arg117His
Search 100 bp 5'
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