Canonical Allele Identifier: CA944382265

Linked Data

dbSNP Id: rs1943722889
gnomAD v3: 12-6847169-C-T
gnomAD v4: 12-6847169-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6847169C>T , CM000674.2:g.6847169C>T GRCh38
NC_000012.11:g.6956333C>T , CM000674.1:g.6956333C>T GRCh37
NC_000012.10:g.6826594C>T NCBI36
NG_009100.1:g.11959C>T
NG_009100.2:g.11959C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.*271C>T (GNB3) MANE Select ENSP00000229264.3:n.*271C>T
ENST00000229264.7:c.*271C>T (GNB3) ENSP00000229264.3:n.*271C>T
ENST00000422785.7:c.545-266G>A (CDCA3) ENSP00000415142.2:n.545-266G>A
ENST00000540458.5:n.2645C>T (GNB3)
ENST00000542751.1:n.814C>T (GNB3)
ENST00000603043.1:n.308-266G>A (CDCA3)
ENST00000604599.1:n.813-266G>A (CDCA3)
NM_001297571.1:c.*271C>T (GNB3) NP_001284500.1:n.*271C>T
NM_001297603.1:c.545-266G>A (CDCA3) NP_001284532.1:n.545-266G>A
NM_002075.3:c.*271C>T (GNB3) NP_002066.1:n.*271C>T
XM_011521027.1:c.*983-266G>A (CDCA3) XP_011519329.1:n.*983-266G>A
XM_011521028.1:c.*983-266G>A (CDCA3) XP_011519330.1:n.*983-266G>A
XM_011521029.1:c.*1201-266G>A (CDCA3) XP_011519331.1:n.*1201-266G>A
XM_011521030.1:c.*1134-266G>A (CDCA3) XP_011519332.1:n.*1134-266G>A
NM_001297603.2:c.545-266G>A (CDCA3) NP_001284532.1:n.545-266G>A
XR_001748879.2:n.2528-266G>A (CDCA3)
XR_001748880.2:n.1879-266G>A (CDCA3)
XR_001748881.2:n.1788-266G>A (CDCA3)
XR_002957383.1:n.2030-266G>A (CDCA3)
XR_002957384.1:n.2941-266G>A (CDCA3)
XR_002957385.1:n.2421-266G>A (CDCA3)
NM_001297571.2:c.*271C>T (GNB3) NP_001284500.1:n.*271C>T
NM_002075.4:c.*271C>T (GNB3) MANE Select NP_002066.1:n.*271C>T
NM_001297603.3:c.545-266G>A (CDCA3) NP_001284532.1:n.545-266G>A