Canonical Allele Identifier: CA478155771
Gene: GNB3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6952211T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6843047T>C , CM000674.2:g.6843047T>C GRCh38
NC_000012.11:g.6952211T>C , CM000674.1:g.6952211T>C GRCh37
NC_000012.10:g.6822472T>C NCBI36
NG_009100.1:g.7837T>C
NG_009100.2:g.7837T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.174T>C MANE Select ENSP00000229264.3:p.Ile58=
ENST00000229264.7:c.174T>C ENSP00000229264.3:p.Ile58=
ENST00000435982.6:c.174T>C ENSP00000414734.2:p.Ile58=
ENST00000537035.1:c.174T>C ENSP00000445967.1:p.Ile58=
ENST00000539127.5:c.*194T>C ENSP00000444325.1:n.*194T>C
ENST00000540458.5:n.1525T>C
ENST00000541257.5:c.174T>C ENSP00000442002.1:p.Ile58=
ENST00000541978.5:c.174T>C ENSP00000439753.2:p.Ile58=
NM_001297571.1:c.174T>C NP_001284500.1:p.Ile58=
NM_002075.3:c.174T>C NP_002066.1:p.Ile58=
XM_011520953.1:c.174T>C XP_011519255.1:p.Ile58=
XM_011520954.1:c.174T>C XP_011519256.1:p.Ile58=
XM_011520953.3:c.174T>C XP_011519255.1:p.Ile58=
NM_001297571.2:c.174T>C NP_001284500.1:p.Ile58=
NM_002075.4:c.174T>C MANE Select NP_002066.1:p.Ile58=