Canonical Allele Identifier: CA2014278188

Linked Data

dbSNP Id: rs1943671233
gnomAD v4: 12-6845532-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6845532G>C , CM000674.2:g.6845532G>C GRCh38
NC_000012.11:g.6954696G>C , CM000674.1:g.6954696G>C GRCh37
NC_000012.10:g.6824957G>C NCBI36
NG_009100.1:g.10322G>C
NG_009100.2:g.10322G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000229264.8:c.700-54G>C (GNB3) MANE Select ENSP00000229264.3:n.700-54G>C
ENST00000229264.7:c.700-54G>C (GNB3) ENSP00000229264.3:n.700-54G>C
ENST00000422785.7:c.*1256C>G (CDCA3) ENSP00000415142.2:n.*1256C>G
ENST00000435982.6:c.697-54G>C (GNB3) ENSP00000414734.2:n.697-54G>C
ENST00000537035.1:c.577-54G>C (GNB3) ENSP00000445967.1:n.577-54G>C
ENST00000540458.5:n.2051-54G>C (GNB3)
ENST00000542751.1:n.166G>C (GNB3)
ENST00000603043.1:n.1322C>G (CDCA3)
ENST00000604599.1:n.2184C>G (CDCA3)
NM_001297571.1:c.697-54G>C (GNB3) NP_001284500.1:n.697-54G>C
NM_002075.3:c.700-54G>C (GNB3) NP_002066.1:n.700-54G>C
XM_011520953.1:c.700-54G>C (GNB3) XP_011519255.1:n.700-54G>C
XM_011520954.1:c.697-54G>C (GNB3) XP_011519256.1:n.697-54G>C
XM_011521027.1:c.*1997C>G (CDCA3) XP_011519329.1:n.*1997C>G
XM_011521028.1:c.*1997C>G (CDCA3) XP_011519330.1:n.*1997C>G
XM_011521029.1:c.*2215C>G (CDCA3) XP_011519331.1:n.*2215C>G
XM_011521030.1:c.*2148C>G (CDCA3) XP_011519332.1:n.*2148C>G
XM_011520953.3:c.700-54G>C (GNB3) XP_011519255.1:n.700-54G>C
XR_001748879.2:n.3542C>G (CDCA3)
XR_001748880.2:n.2893C>G (CDCA3)
XR_001748881.2:n.2802C>G (CDCA3)
XR_002957383.1:n.3044C>G (CDCA3)
XR_002957384.1:n.3955C>G (CDCA3)
XR_002957385.1:n.3435C>G (CDCA3)
NM_001297571.2:c.697-54G>C (GNB3) NP_001284500.1:n.697-54G>C
NM_002075.4:c.700-54G>C (GNB3) MANE Select NP_002066.1:n.700-54G>C
NM_001297603.3:c.*1256C>G (CDCA3) NP_001284532.1:n.*1256C>G