Canonical Allele Identifier: CA691213624

Gene: GNB3 CDCA3

Linked Data

• dbSNP Id: rs1476208948
• gnomAD v3: 12-6847118-C-G
• gnomAD v4: 12-6847118-C-G
• MyVariant Identifiers: chr12:g.6847118C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6847118C>G , CM000674.2:g.6847118C>G	GRCh38
NC_000012.11:g.6956282C>G , CM000674.1:g.6956282C>G	GRCh37
NC_000012.10:g.6826543C>G	NCBI36
NG_009100.1:g.11908C>G
NG_009100.2:g.11908C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229264.8:c.*220C>G (GNB3) MANE Select	ENSP00000229264.3:n.*220C>G
ENST00000229264.7:c.*220C>G (GNB3)	ENSP00000229264.3:n.*220C>G
ENST00000422785.7:c.545-215G>C (CDCA3)	ENSP00000415142.2:n.545-215G>C
ENST00000540458.5:n.2594C>G (GNB3)
ENST00000542751.1:n.763C>G (GNB3)
ENST00000603043.1:n.308-215G>C (CDCA3)
ENST00000604599.1:n.813-215G>C (CDCA3)
NM_001297571.1:c.*220C>G (GNB3)	NP_001284500.1:n.*220C>G
NM_001297603.1:c.545-215G>C (CDCA3)	NP_001284532.1:n.545-215G>C
NM_002075.3:c.*220C>G (GNB3)	NP_002066.1:n.*220C>G
XM_011521027.1:c.*983-215G>C (CDCA3)	XP_011519329.1:n.*983-215G>C
XM_011521028.1:c.*983-215G>C (CDCA3)	XP_011519330.1:n.*983-215G>C
XM_011521029.1:c.*1201-215G>C (CDCA3)	XP_011519331.1:n.*1201-215G>C
XM_011521030.1:c.*1134-215G>C (CDCA3)	XP_011519332.1:n.*1134-215G>C
NM_001297603.2:c.545-215G>C (CDCA3)	NP_001284532.1:n.545-215G>C
XR_001748879.2:n.2528-215G>C (CDCA3)
XR_001748880.2:n.1879-215G>C (CDCA3)
XR_001748881.2:n.1788-215G>C (CDCA3)
XR_002957383.1:n.2030-215G>C (CDCA3)
XR_002957384.1:n.2941-215G>C (CDCA3)
XR_002957385.1:n.2421-215G>C (CDCA3)
NM_001297571.2:c.*220C>G (GNB3)	NP_001284500.1:n.*220C>G
NM_002075.4:c.*220C>G (GNB3) MANE Select	NP_002066.1:n.*220C>G
NM_001297603.3:c.545-215G>C (CDCA3)	NP_001284532.1:n.545-215G>C