Canonical Allele Identifier: CA478155881

Linked Data

MyVariant Identifiers: chr12:g.6954794T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845630T>G , CM000674.2:g.6845630T>G GRCh38
NC_000012.11:g.6954794T>G , CM000674.1:g.6954794T>G GRCh37
NC_000012.10:g.6825055T>G NCBI36
NG_009100.1:g.10420T>G
NG_009100.2:g.10420T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000229264.8:c.744T>G (GNB3) MANE Select ENSP00000229264.3:p.Ala248=
ENST00000229264.7:c.744T>G (GNB3) ENSP00000229264.3:p.Ala248=
ENST00000422785.7:c.*1158A>C (CDCA3) ENSP00000415142.2:n.*1158A>C
ENST00000435982.6:c.741T>G (GNB3) ENSP00000414734.2:p.Ala247=
ENST00000537035.1:c.621T>G (GNB3) ENSP00000445967.1:p.Ala207=
ENST00000540458.5:n.2095T>G (GNB3)
ENST00000542751.1:n.264T>G (GNB3)
ENST00000603043.1:n.1224A>C (CDCA3)
ENST00000604599.1:n.2086A>C (CDCA3)
NM_001297571.1:c.741T>G (GNB3) NP_001284500.1:p.Ala247=
NM_002075.3:c.744T>G (GNB3) NP_002066.1:p.Ala248=
XM_011520953.1:c.744T>G (GNB3) XP_011519255.1:p.Ala248=
XM_011520954.1:c.741T>G (GNB3) XP_011519256.1:p.Ala247=
XM_011521027.1:c.*1899A>C (CDCA3) XP_011519329.1:n.*1899A>C
XM_011521028.1:c.*1899A>C (CDCA3) XP_011519330.1:n.*1899A>C
XM_011521029.1:c.*2117A>C (CDCA3) XP_011519331.1:n.*2117A>C
XM_011521030.1:c.*2050A>C (CDCA3) XP_011519332.1:n.*2050A>C
XM_011520953.3:c.744T>G (GNB3) XP_011519255.1:p.Ala248=
XR_001748879.2:n.3444A>C (CDCA3)
XR_001748880.2:n.2795A>C (CDCA3)
XR_001748881.2:n.2704A>C (CDCA3)
XR_002957383.1:n.2946A>C (CDCA3)
XR_002957384.1:n.3857A>C (CDCA3)
XR_002957385.1:n.3337A>C (CDCA3)
NM_001297571.2:c.741T>G (GNB3) NP_001284500.1:p.Ala247=
NM_002075.4:c.744T>G (GNB3) MANE Select NP_002066.1:p.Ala248=
NM_001297603.3:c.*1158A>C (CDCA3) NP_001284532.1:n.*1158A>C