Canonical Allele Identifier: CA6417671
Gene: GNB3 HGNC NCBI
CDCA3 HGNC NCBI
COSMIC:
COSM3736074 (not active)
MyVariant.info:
GRCh38 chr12:g.6845700G>A
GRCh37 chr12:g.6954864G>A
Revel Score:
ENST00000229264 (MANE Select) 0.316
ENST00000435982 0.316
ENST00000537035 0.316
gnomAD v2:
12:6954864 G / A
gnomAD v3:
12:6845700 G / A
gnomAD v4:
chr12-6845700-G-A
Joint Max Group AF 0.06804162 (NFE)
Genomes Max Group AF 0.06413832 (NFE)
Exomes Max Group AF 0.06819397 (NFE)
ClinVar RCV:
RCV001522185
ClinVar Variation:
1170122
dbSNP:
5442
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845700G>A , CM000674.2:g.6845700G>A GRCh38
NC_000012.11:g.6954864G>A , CM000674.1:g.6954864G>A GRCh37
NC_000012.10:g.6825125G>A NCBI36
NG_009100.1:g.10490G>A
NG_009100.2:g.10490G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.814G>A (GNB3) MANE Select ENSP00000229264.3:p.Gly272Ser
ENST00000229264.7:c.814G>A (GNB3) ENSP00000229264.3:p.Gly272Ser
ENST00000422785.7:c.*1088C>T (CDCA3) ENSP00000415142.2:n.*1088C>T
ENST00000435982.6:c.811G>A (GNB3) ENSP00000414734.2:p.Gly271Ser
ENST00000537035.1:c.691G>A (GNB3) ENSP00000445967.1:p.Gly231Ser
ENST00000540458.5:n.2165G>A (GNB3)
ENST00000542751.1:n.334G>A (GNB3)
ENST00000603043.1:n.1154C>T (CDCA3)
ENST00000604599.1:n.2016C>T (CDCA3)
NM_001297571.1:c.811G>A (GNB3) NP_001284500.1:p.Gly271Ser
NM_002075.3:c.814G>A (GNB3) NP_002066.1:p.Gly272Ser
XM_011520953.1:c.814G>A (GNB3) XP_011519255.1:p.Gly272Ser
XM_011520954.1:c.811G>A (GNB3) XP_011519256.1:p.Gly271Ser
XM_011521027.1:c.*1829C>T (CDCA3) XP_011519329.1:n.*1829C>T
XM_011521028.1:c.*1829C>T (CDCA3) XP_011519330.1:n.*1829C>T
XM_011521029.1:c.*2047C>T (CDCA3) XP_011519331.1:n.*2047C>T
XM_011521030.1:c.*1980C>T (CDCA3) XP_011519332.1:n.*1980C>T
XM_011520953.3:c.814G>A (GNB3) XP_011519255.1:p.Gly272Ser
XR_001748879.2:n.3374C>T (CDCA3)
XR_001748880.2:n.2725C>T (CDCA3)
XR_001748881.2:n.2634C>T (CDCA3)
XR_002957383.1:n.2876C>T (CDCA3)
XR_002957384.1:n.3787C>T (CDCA3)
XR_002957385.1:n.3267C>T (CDCA3)
NM_001297571.2:c.811G>A (GNB3) NP_001284500.1:p.Gly271Ser
NM_002075.4:c.814G>A (GNB3) MANE Select NP_002066.1:p.Gly272Ser
NM_001297603.3:c.*1088C>T (CDCA3) NP_001284532.1:n.*1088C>T
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