Canonical Allele Identifier: CA603131256

Linked Data

dbSNP Id: rs1201036407
gnomAD v2: 12-6954550-G-A
gnomAD v3: 12-6845386-G-A
gnomAD v4: 12-6845386-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845386G>A , CM000674.2:g.6845386G>A GRCh38
NC_000012.11:g.6954550G>A , CM000674.1:g.6954550G>A GRCh37
NC_000012.10:g.6824811G>A NCBI36
NG_009100.1:g.10176G>A
NG_009100.2:g.10176G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.700-200G>A (GNB3) MANE Select ENSP00000229264.3:n.700-200G>A
ENST00000229264.7:c.700-200G>A (GNB3) ENSP00000229264.3:n.700-200G>A
ENST00000422785.7:c.*1402C>T (CDCA3) ENSP00000415142.2:n.*1402C>T
ENST00000435982.6:c.697-200G>A (GNB3) ENSP00000414734.2:n.697-200G>A
ENST00000537035.1:c.577-200G>A (GNB3) ENSP00000445967.1:n.577-200G>A
ENST00000540458.5:n.2051-200G>A (GNB3)
ENST00000542751.1:n.20G>A (GNB3)
ENST00000603043.1:n.1468C>T (CDCA3)
ENST00000604599.1:n.2330C>T (CDCA3)
NM_001297571.1:c.697-200G>A (GNB3) NP_001284500.1:n.697-200G>A
NM_002075.3:c.700-200G>A (GNB3) NP_002066.1:n.700-200G>A
XM_011520953.1:c.700-200G>A (GNB3) XP_011519255.1:n.700-200G>A
XM_011520954.1:c.697-200G>A (GNB3) XP_011519256.1:n.697-200G>A
XM_011521027.1:c.*2143C>T (CDCA3) XP_011519329.1:n.*2143C>T
XM_011521028.1:c.*2143C>T (CDCA3) XP_011519330.1:n.*2143C>T
XM_011521029.1:c.*2361C>T (CDCA3) XP_011519331.1:n.*2361C>T
XM_011521030.1:c.*2294C>T (CDCA3) XP_011519332.1:n.*2294C>T
XM_011520953.3:c.700-200G>A (GNB3) XP_011519255.1:n.700-200G>A
XR_001748879.2:n.3688C>T (CDCA3)
XR_001748880.2:n.3039C>T (CDCA3)
XR_001748881.2:n.2948C>T (CDCA3)
XR_002957383.1:n.3190C>T (CDCA3)
XR_002957384.1:n.4101C>T (CDCA3)
XR_002957385.1:n.3581C>T (CDCA3)
NM_001297571.2:c.697-200G>A (GNB3) NP_001284500.1:n.697-200G>A
NM_002075.4:c.700-200G>A (GNB3) MANE Select NP_002066.1:n.700-200G>A
NM_001297603.3:c.*1402C>T (CDCA3) NP_001284532.1:n.*1402C>T