Canonical Allele Identifier: CA2617346674
Gene: GNB3 HGNC NCBI

Linked Data

gnomAD v4: 12-6843134-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6843134G>C , CM000674.2:g.6843134G>C GRCh38
NC_000012.11:g.6952298G>C , CM000674.1:g.6952298G>C GRCh37
NC_000012.10:g.6822559G>C NCBI36
NG_009100.1:g.7924G>C
NG_009100.2:g.7924G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.204-40G>C MANE Select ENSP00000229264.3:n.204-40G>C
ENST00000229264.7:c.204-40G>C ENSP00000229264.3:n.204-40G>C
ENST00000435982.6:c.204-40G>C ENSP00000414734.2:n.204-40G>C
ENST00000537035.1:c.204-40G>C ENSP00000445967.1:n.204-40G>C
ENST00000539127.5:c.*224-40G>C ENSP00000444325.1:n.*224-40G>C
ENST00000540458.5:n.1555-40G>C
ENST00000541257.5:c.204-40G>C ENSP00000442002.1:n.204-40G>C
ENST00000541978.5:c.204-40G>C ENSP00000439753.2:n.204-40G>C
NM_001297571.1:c.204-40G>C NP_001284500.1:n.204-40G>C
NM_002075.3:c.204-40G>C NP_002066.1:n.204-40G>C
XM_011520953.1:c.204-40G>C XP_011519255.1:n.204-40G>C
XM_011520954.1:c.204-40G>C XP_011519256.1:n.204-40G>C
XM_011520953.3:c.204-40G>C XP_011519255.1:n.204-40G>C
NM_001297571.2:c.204-40G>C NP_001284500.1:n.204-40G>C
NM_002075.4:c.204-40G>C MANE Select NP_002066.1:n.204-40G>C