Canonical Allele Identifier: CA400343276
Gene: RNF43 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000407977.7:c.350G>C MANE Select ENSP00000385328.2:p.Arg117Pro
ENST00000648873.1:c.350G>C ENSP00000497686.1:p.Arg117Pro
ENST00000407977.6:c.350G>C ENSP00000385328.2:p.Arg117Pro
ENST00000577625.5:c.-32G>C ENSP00000463716.1:n.-32G>C
ENST00000577716.5:c.350G>C ENSP00000462764.1:p.Arg117Pro
ENST00000581868.1:c.-32G>C ENSP00000462447.1:n.-32G>C
ENST00000583753.5:c.253-7336G>C ENSP00000462502.1:n.253-7336G>C
ENST00000584437.5:c.350G>C ENSP00000463069.1:p.Arg117Pro
NM_001305544.1:c.350G>C NP_001292473.1:p.Arg117Pro
NM_001305545.1:c.-32G>C NP_001292474.1:n.-32G>C
NM_017763.4:c.350G>C NP_060233.3:p.Arg117Pro
NM_017763.5:c.350G>C , LRG_1026t1:c.350G>C NP_060233.3:p.Arg117Pro
XM_011524954.1:c.350G>C XP_011523256.1:p.Arg117Pro
XM_011524955.1:c.350G>C XP_011523257.1:p.Arg117Pro
XM_011524956.1:c.-32G>C XP_011523258.1:n.-32G>C
XM_011524955.3:c.350G>C XP_011523257.1:p.Arg117Pro
XM_011524956.3:c.-32G>C XP_011523258.1:n.-32G>C
XM_017024800.2:c.350G>C XP_016880289.1:p.Arg117Pro
NM_001305544.2:c.350G>C NP_001292473.1:p.Arg117Pro
NM_017763.6:c.350G>C MANE Select NP_060233.3:p.Arg117Pro