Canonical Allele Identifier: CA691221391
Gene: GNB3 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6843245C>A , CM000674.2:g.6843245C>A GRCh38
NC_000012.11:g.6952409C>A , CM000674.1:g.6952409C>A GRCh37
NC_000012.10:g.6822670C>A NCBI36
NG_009100.1:g.8035C>A
NG_009100.2:g.8035C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229264.8:c.267+8C>A MANE Select ENSP00000229264.3:n.267+8C>A
ENST00000229264.7:c.267+8C>A ENSP00000229264.3:n.267+8C>A
ENST00000435982.6:c.267+8C>A ENSP00000414734.2:n.267+8C>A
ENST00000537035.1:c.267+8C>A ENSP00000445967.1:n.267+8C>A
ENST00000539127.5:c.*287+8C>A ENSP00000444325.1:n.*287+8C>A
ENST00000540458.5:n.1618+8C>A
ENST00000541257.5:c.267+8C>A ENSP00000442002.1:n.267+8C>A
ENST00000541978.5:c.267+8C>A ENSP00000439753.2:n.267+8C>A
NM_001297571.1:c.267+8C>A NP_001284500.1:n.267+8C>A
NM_002075.3:c.267+8C>A NP_002066.1:n.267+8C>A
XM_011520953.1:c.267+8C>A XP_011519255.1:n.267+8C>A
XM_011520954.1:c.267+8C>A XP_011519256.1:n.267+8C>A
XM_011520953.3:c.267+8C>A XP_011519255.1:n.267+8C>A
NM_001297571.2:c.267+8C>A NP_001284500.1:n.267+8C>A
NM_002075.4:c.267+8C>A MANE Select NP_002066.1:n.267+8C>A