Canonical Allele Identifier: CA400342984
Gene: RNF43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58370909A>G , CM000679.2:g.58370909A>G GRCh38
NC_000017.10:g.56448270A>G , CM000679.1:g.56448270A>G GRCh37
NC_000017.9:g.53803269A>G NCBI36
NG_042894.1:g.51674T>C , LRG_1026:g.51674T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000407977.7:c.375+2T>C MANE Select ENSP00000385328.2:n.375+2T>C
ENST00000648873.1:c.375+2T>C ENSP00000497686.1:n.375+2T>C
ENST00000407977.6:c.375+2T>C ENSP00000385328.2:n.375+2T>C
ENST00000577625.5:c.-7+2T>C ENSP00000463716.1:n.-7+2T>C
ENST00000577716.5:c.375+2T>C ENSP00000462764.1:n.375+2T>C
ENST00000581868.1:c.-7+2T>C ENSP00000462447.1:n.-7+2T>C
ENST00000583753.5:c.253-7309T>C ENSP00000462502.1:n.253-7309T>C
ENST00000584437.5:c.375+2T>C ENSP00000463069.1:n.375+2T>C
NM_001305544.1:c.375+2T>C NP_001292473.1:n.375+2T>C
NM_001305545.1:c.-7+2T>C NP_001292474.1:n.-7+2T>C
NM_017763.4:c.375+2T>C NP_060233.3:n.375+2T>C
NM_017763.5:c.375+2T>C , LRG_1026t1:c.375+2T>C NP_060233.3:n.375+2T>C
XM_011524954.1:c.375+2T>C XP_011523256.1:n.375+2T>C
XM_011524955.1:c.375+2T>C XP_011523257.1:n.375+2T>C
XM_011524956.1:c.-7+2T>C XP_011523258.1:n.-7+2T>C
XM_011524955.3:c.375+2T>C XP_011523257.1:n.375+2T>C
XM_011524956.3:c.-7+2T>C XP_011523258.1:n.-7+2T>C
XM_017024800.2:c.375+2T>C XP_016880289.1:n.375+2T>C
NM_001305544.2:c.375+2T>C NP_001292473.1:n.375+2T>C
NM_017763.6:c.375+2T>C MANE Select NP_060233.3:n.375+2T>C