Canonical Allele Identifier: CA2617344197

Linked Data

gnomAD v4: 12-6847220-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6847220T>C , CM000674.2:g.6847220T>C GRCh38
NC_000012.11:g.6956384T>C , CM000674.1:g.6956384T>C GRCh37
NC_000012.10:g.6826645T>C NCBI36
NG_009100.1:g.12010T>C
NG_009100.2:g.12010T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.*322T>C (GNB3) MANE Select ENSP00000229264.3:n.*322T>C
ENST00000229264.7:c.*322T>C (GNB3) ENSP00000229264.3:n.*322T>C
ENST00000422785.7:c.545-317A>G (CDCA3) ENSP00000415142.2:n.545-317A>G
ENST00000540458.5:n.2696T>C (GNB3)
ENST00000542751.1:n.865T>C (GNB3)
ENST00000603043.1:n.308-317A>G (CDCA3)
ENST00000604599.1:n.813-317A>G (CDCA3)
NM_001297571.1:c.*322T>C (GNB3) NP_001284500.1:n.*322T>C
NM_001297603.1:c.545-317A>G (CDCA3) NP_001284532.1:n.545-317A>G
NM_002075.3:c.*322T>C (GNB3) NP_002066.1:n.*322T>C
XM_011521027.1:c.*983-317A>G (CDCA3) XP_011519329.1:n.*983-317A>G
XM_011521028.1:c.*983-317A>G (CDCA3) XP_011519330.1:n.*983-317A>G
XM_011521029.1:c.*1201-317A>G (CDCA3) XP_011519331.1:n.*1201-317A>G
XM_011521030.1:c.*1134-317A>G (CDCA3) XP_011519332.1:n.*1134-317A>G
NM_001297603.2:c.545-317A>G (CDCA3) NP_001284532.1:n.545-317A>G
XR_001748879.2:n.2528-317A>G (CDCA3)
XR_001748880.2:n.1879-317A>G (CDCA3)
XR_001748881.2:n.1788-317A>G (CDCA3)
XR_002957383.1:n.2030-317A>G (CDCA3)
XR_002957384.1:n.2941-317A>G (CDCA3)
XR_002957385.1:n.2421-317A>G (CDCA3)
NM_001297571.2:c.*322T>C (GNB3) NP_001284500.1:n.*322T>C
NM_002075.4:c.*322T>C (GNB3) MANE Select NP_002066.1:n.*322T>C
NM_001297603.3:c.545-317A>G (CDCA3) NP_001284532.1:n.545-317A>G