Canonical Allele Identifier: CA2573136789
Gene: GNB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1579632
ClinVar RCV Id: RCV002083978
dbSNP Id: rs1714426501

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.179405173T>G , CM000665.2:g.179405173T>G GRCh38
NC_000003.11:g.179122961T>G , CM000665.1:g.179122961T>G GRCh37
NC_000003.10:g.180605655T>G NCBI36
NG_033163.1:g.51411A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000232564.8:c.916+17A>C MANE Select ENSP00000232564.3:n.916+17A>C
ENST00000466899.6:c.700-3854A>C ENSP00000420066.2:n.700-3854A>C
ENST00000468623.6:c.877+17A>C ENSP00000419693.2:n.877+17A>C
ENST00000674713.1:c.808+17A>C ENSP00000502144.1:n.808+17A>C
ENST00000674862.1:c.916+17A>C ENSP00000502628.1:n.916+17A>C
ENST00000674927.1:c.933A>C ENSP00000501774.1:n.933A>C
ENST00000675901.1:c.916+17A>C ENSP00000501992.1:n.916+17A>C
ENST00000676128.1:c.916+17A>C ENSP00000501882.1:n.916+17A>C
ENST00000232564.7:c.916+17A>C ENSP00000232564.3:n.916+17A>C
ENST00000466899.5:c.467-3854A>C
ENST00000468623.5:c.916+17A>C ENSP00000419693.1:n.916+17A>C
NM_021629.3:c.916+17A>C NP_067642.1:n.916+17A>C
XM_005247692.1:c.916+17A>C XP_005247749.1:n.916+17A>C
XM_006713721.1:c.916+17A>C XP_006713784.1:n.916+17A>C
XM_005247692.2:c.916+17A>C XP_005247749.1:n.916+17A>C
XM_006713721.2:c.916+17A>C XP_006713784.1:n.916+17A>C
NM_021629.4:c.916+17A>C MANE Select NP_067642.1:n.916+17A>C