Canonical Allele Identifier: CA6417668

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845684C>T , CM000674.2:g.6845684C>T GRCh38
NC_000012.11:g.6954848C>T , CM000674.1:g.6954848C>T GRCh37
NC_000012.10:g.6825109C>T NCBI36
NG_009100.1:g.10474C>T
NG_009100.2:g.10474C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.798C>T (GNB3) MANE Select ENSP00000229264.3:p.His266=
ENST00000229264.7:c.798C>T (GNB3) ENSP00000229264.3:p.His266=
ENST00000422785.7:c.*1104G>A (CDCA3) ENSP00000415142.2:n.*1104G>A
ENST00000435982.6:c.795C>T (GNB3) ENSP00000414734.2:p.His265=
ENST00000537035.1:c.675C>T (GNB3) ENSP00000445967.1:p.His225=
ENST00000540458.5:n.2149C>T (GNB3)
ENST00000542751.1:n.318C>T (GNB3)
ENST00000603043.1:n.1170G>A (CDCA3)
ENST00000604599.1:n.2032G>A (CDCA3)
NM_001297571.1:c.795C>T (GNB3) NP_001284500.1:p.His265=
NM_002075.3:c.798C>T (GNB3) NP_002066.1:p.His266=
XM_011520953.1:c.798C>T (GNB3) XP_011519255.1:p.His266=
XM_011520954.1:c.795C>T (GNB3) XP_011519256.1:p.His265=
XM_011521027.1:c.*1845G>A (CDCA3) XP_011519329.1:n.*1845G>A
XM_011521028.1:c.*1845G>A (CDCA3) XP_011519330.1:n.*1845G>A
XM_011521029.1:c.*2063G>A (CDCA3) XP_011519331.1:n.*2063G>A
XM_011521030.1:c.*1996G>A (CDCA3) XP_011519332.1:n.*1996G>A
XM_011520953.3:c.798C>T (GNB3) XP_011519255.1:p.His266=
XR_001748879.2:n.3390G>A (CDCA3)
XR_001748880.2:n.2741G>A (CDCA3)
XR_001748881.2:n.2650G>A (CDCA3)
XR_002957383.1:n.2892G>A (CDCA3)
XR_002957384.1:n.3803G>A (CDCA3)
XR_002957385.1:n.3283G>A (CDCA3)
NM_001297571.2:c.795C>T (GNB3) NP_001284500.1:p.His265=
NM_002075.4:c.798C>T (GNB3) MANE Select NP_002066.1:p.His266=
NM_001297603.3:c.*1104G>A (CDCA3) NP_001284532.1:n.*1104G>A