Canonical Allele Identifier: CA383675185

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845720C>A , CM000674.2:g.6845720C>A GRCh38
NC_000012.11:g.6954884C>A , CM000674.1:g.6954884C>A GRCh37
NC_000012.10:g.6825145C>A NCBI36
NG_009100.1:g.10510C>A
NG_009100.2:g.10510C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000229264.8:c.834C>A (GNB3) MANE Select ENSP00000229264.3:p.Phe278Leu
ENST00000229264.7:c.834C>A (GNB3) ENSP00000229264.3:p.Phe278Leu
ENST00000422785.7:c.*1068G>T (CDCA3) ENSP00000415142.2:n.*1068G>T
ENST00000435982.6:c.831C>A (GNB3) ENSP00000414734.2:p.Phe277Leu
ENST00000537035.1:c.711C>A (GNB3) ENSP00000445967.1:p.Phe237Leu
ENST00000540458.5:n.2185C>A (GNB3)
ENST00000542751.1:n.354C>A (GNB3)
ENST00000603043.1:n.1134G>T (CDCA3)
ENST00000604599.1:n.1996G>T (CDCA3)
NM_001297571.1:c.831C>A (GNB3) NP_001284500.1:p.Phe277Leu
NM_002075.3:c.834C>A (GNB3) NP_002066.1:p.Phe278Leu
XM_011520953.1:c.834C>A (GNB3) XP_011519255.1:p.Phe278Leu
XM_011520954.1:c.831C>A (GNB3) XP_011519256.1:p.Phe277Leu
XM_011521027.1:c.*1809G>T (CDCA3) XP_011519329.1:n.*1809G>T
XM_011521028.1:c.*1809G>T (CDCA3) XP_011519330.1:n.*1809G>T
XM_011521029.1:c.*2027G>T (CDCA3) XP_011519331.1:n.*2027G>T
XM_011521030.1:c.*1960G>T (CDCA3) XP_011519332.1:n.*1960G>T
XM_011520953.3:c.834C>A (GNB3) XP_011519255.1:p.Phe278Leu
XR_001748879.2:n.3354G>T (CDCA3)
XR_001748880.2:n.2705G>T (CDCA3)
XR_001748881.2:n.2614G>T (CDCA3)
XR_002957383.1:n.2856G>T (CDCA3)
XR_002957384.1:n.3767G>T (CDCA3)
XR_002957385.1:n.3247G>T (CDCA3)
NM_001297571.2:c.831C>A (GNB3) NP_001284500.1:p.Phe277Leu
NM_002075.4:c.834C>A (GNB3) MANE Select NP_002066.1:p.Phe278Leu
NM_001297603.3:c.*1068G>T (CDCA3) NP_001284532.1:n.*1068G>T