Canonical Allele Identifier: CA232401058

Linked Data

dbSNP Id: rs782683995
gnomAD v2: 12-6954690-G-A
gnomAD v3: 12-6845526-G-A
gnomAD v4: 12-6845526-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845526G>A , CM000674.2:g.6845526G>A GRCh38
NC_000012.11:g.6954690G>A , CM000674.1:g.6954690G>A GRCh37
NC_000012.10:g.6824951G>A NCBI36
NG_009100.1:g.10316G>A
NG_009100.2:g.10316G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.700-60G>A (GNB3) MANE Select ENSP00000229264.3:n.700-60G>A
ENST00000229264.7:c.700-60G>A (GNB3) ENSP00000229264.3:n.700-60G>A
ENST00000422785.7:c.*1262C>T (CDCA3) ENSP00000415142.2:n.*1262C>T
ENST00000435982.6:c.697-60G>A (GNB3) ENSP00000414734.2:n.697-60G>A
ENST00000537035.1:c.577-60G>A (GNB3) ENSP00000445967.1:n.577-60G>A
ENST00000540458.5:n.2051-60G>A (GNB3)
ENST00000542751.1:n.160G>A (GNB3)
ENST00000603043.1:n.1328C>T (CDCA3)
ENST00000604599.1:n.2190C>T (CDCA3)
NM_001297571.1:c.697-60G>A (GNB3) NP_001284500.1:n.697-60G>A
NM_002075.3:c.700-60G>A (GNB3) NP_002066.1:n.700-60G>A
XM_011520953.1:c.700-60G>A (GNB3) XP_011519255.1:n.700-60G>A
XM_011520954.1:c.697-60G>A (GNB3) XP_011519256.1:n.697-60G>A
XM_011521027.1:c.*2003C>T (CDCA3) XP_011519329.1:n.*2003C>T
XM_011521028.1:c.*2003C>T (CDCA3) XP_011519330.1:n.*2003C>T
XM_011521029.1:c.*2221C>T (CDCA3) XP_011519331.1:n.*2221C>T
XM_011521030.1:c.*2154C>T (CDCA3) XP_011519332.1:n.*2154C>T
XM_011520953.3:c.700-60G>A (GNB3) XP_011519255.1:n.700-60G>A
XR_001748879.2:n.3548C>T (CDCA3)
XR_001748880.2:n.2899C>T (CDCA3)
XR_001748881.2:n.2808C>T (CDCA3)
XR_002957383.1:n.3050C>T (CDCA3)
XR_002957384.1:n.3961C>T (CDCA3)
XR_002957385.1:n.3441C>T (CDCA3)
NM_001297571.2:c.697-60G>A (GNB3) NP_001284500.1:n.697-60G>A
NM_002075.4:c.700-60G>A (GNB3) MANE Select NP_002066.1:n.700-60G>A
NM_001297603.3:c.*1262C>T (CDCA3) NP_001284532.1:n.*1262C>T