Canonical Allele Identifier: CA2617351916

Linked Data

gnomAD v4: 12-6845539-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845539G>T , CM000674.2:g.6845539G>T GRCh38
NC_000012.11:g.6954703G>T , CM000674.1:g.6954703G>T GRCh37
NC_000012.10:g.6824964G>T NCBI36
NG_009100.1:g.10329G>T
NG_009100.2:g.10329G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.700-47G>T (GNB3) MANE Select ENSP00000229264.3:n.700-47G>T
ENST00000229264.7:c.700-47G>T (GNB3) ENSP00000229264.3:n.700-47G>T
ENST00000422785.7:c.*1249C>A (CDCA3) ENSP00000415142.2:n.*1249C>A
ENST00000435982.6:c.697-47G>T (GNB3) ENSP00000414734.2:n.697-47G>T
ENST00000537035.1:c.577-47G>T (GNB3) ENSP00000445967.1:n.577-47G>T
ENST00000540458.5:n.2051-47G>T (GNB3)
ENST00000542751.1:n.173G>T (GNB3)
ENST00000603043.1:n.1315C>A (CDCA3)
ENST00000604599.1:n.2177C>A (CDCA3)
NM_001297571.1:c.697-47G>T (GNB3) NP_001284500.1:n.697-47G>T
NM_002075.3:c.700-47G>T (GNB3) NP_002066.1:n.700-47G>T
XM_011520953.1:c.700-47G>T (GNB3) XP_011519255.1:n.700-47G>T
XM_011520954.1:c.697-47G>T (GNB3) XP_011519256.1:n.697-47G>T
XM_011521027.1:c.*1990C>A (CDCA3) XP_011519329.1:n.*1990C>A
XM_011521028.1:c.*1990C>A (CDCA3) XP_011519330.1:n.*1990C>A
XM_011521029.1:c.*2208C>A (CDCA3) XP_011519331.1:n.*2208C>A
XM_011521030.1:c.*2141C>A (CDCA3) XP_011519332.1:n.*2141C>A
XM_011520953.3:c.700-47G>T (GNB3) XP_011519255.1:n.700-47G>T
XR_001748879.2:n.3535C>A (CDCA3)
XR_001748880.2:n.2886C>A (CDCA3)
XR_001748881.2:n.2795C>A (CDCA3)
XR_002957383.1:n.3037C>A (CDCA3)
XR_002957384.1:n.3948C>A (CDCA3)
XR_002957385.1:n.3428C>A (CDCA3)
NM_001297571.2:c.697-47G>T (GNB3) NP_001284500.1:n.697-47G>T
NM_002075.4:c.700-47G>T (GNB3) MANE Select NP_002066.1:n.700-47G>T
NM_001297603.3:c.*1249C>A (CDCA3) NP_001284532.1:n.*1249C>A