Canonical Allele Identifier: CA2559939435

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6847192C>G , CM000674.2:g.6847192C>G GRCh38
NC_000012.11:g.6956356C>G , CM000674.1:g.6956356C>G GRCh37
NC_000012.10:g.6826617C>G NCBI36
NG_009100.1:g.11982C>G
NG_009100.2:g.11982C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.*294C>G (GNB3) MANE Select ENSP00000229264.3:n.*294C>G
ENST00000229264.7:c.*294C>G (GNB3) ENSP00000229264.3:n.*294C>G
ENST00000422785.7:c.545-289G>C (CDCA3) ENSP00000415142.2:n.545-289G>C
ENST00000540458.5:n.2668C>G (GNB3)
ENST00000542751.1:n.837C>G (GNB3)
ENST00000603043.1:n.308-289G>C (CDCA3)
ENST00000604599.1:n.813-289G>C (CDCA3)
NM_001297571.1:c.*294C>G (GNB3) NP_001284500.1:n.*294C>G
NM_001297603.1:c.545-289G>C (CDCA3) NP_001284532.1:n.545-289G>C
NM_002075.3:c.*294C>G (GNB3) NP_002066.1:n.*294C>G
XM_011521027.1:c.*983-289G>C (CDCA3) XP_011519329.1:n.*983-289G>C
XM_011521028.1:c.*983-289G>C (CDCA3) XP_011519330.1:n.*983-289G>C
XM_011521029.1:c.*1201-289G>C (CDCA3) XP_011519331.1:n.*1201-289G>C
XM_011521030.1:c.*1134-289G>C (CDCA3) XP_011519332.1:n.*1134-289G>C
NM_001297603.2:c.545-289G>C (CDCA3) NP_001284532.1:n.545-289G>C
XR_001748879.2:n.2528-289G>C (CDCA3)
XR_001748880.2:n.1879-289G>C (CDCA3)
XR_001748881.2:n.1788-289G>C (CDCA3)
XR_002957383.1:n.2030-289G>C (CDCA3)
XR_002957384.1:n.2941-289G>C (CDCA3)
XR_002957385.1:n.2421-289G>C (CDCA3)
NM_001297571.2:c.*294C>G (GNB3) NP_001284500.1:n.*294C>G
NM_002075.4:c.*294C>G (GNB3) MANE Select NP_002066.1:n.*294C>G
NM_001297603.3:c.545-289G>C (CDCA3) NP_001284532.1:n.545-289G>C