Canonical Allele Identifier: CA2712535

Gene: GNB4

Linked Data

• ClinVar Variation Id: 540924
• ClinVar RCV Id: RCV000651085
• dbSNP Id: rs377746889
• ExAC: 3:179134348 G / C
• gnomAD v2: 3-179134348-G-C
• gnomAD v3: 3-179416560-G-C
• gnomAD v4: 3-179416560-G-C
• MyVariant Identifiers: chr3:g.179134348G>C (hg19) ; chr3:g.179416560G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179416560G>C , CM000665.2:g.179416560G>C	GRCh38
NC_000003.11:g.179134348G>C , CM000665.1:g.179134348G>C	GRCh37
NC_000003.10:g.180617042G>C	NCBI36
NG_033163.1:g.40024C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000232564.8:c.204-4C>G MANE Select	ENSP00000232564.3:n.204-4C>G
ENST00000465153.2:c.204-4C>G	ENSP00000502010.1:n.204-4C>G
ENST00000466899.6:c.204-4C>G	ENSP00000420066.2:n.204-4C>G
ENST00000468623.6:c.165-4C>G	ENSP00000419693.2:n.165-4C>G
ENST00000674713.1:c.96-4C>G	ENSP00000502144.1:n.96-4C>G
ENST00000674862.1:c.204-4C>G	ENSP00000502628.1:n.204-4C>G
ENST00000674927.1:c.204-4C>G	ENSP00000501774.1:n.204-4C>G
ENST00000675901.1:c.204-4C>G	ENSP00000501992.1:n.204-4C>G
ENST00000676128.1:c.204-4C>G	ENSP00000501882.1:n.204-4C>G
ENST00000232564.7:c.204-4C>G	ENSP00000232564.3:n.204-4C>G
ENST00000468623.5:c.204-4C>G	ENSP00000419693.1:n.204-4C>G
ENST00000497513.1:c.204-4C>G	ENSP00000420606.1:n.204-4C>G
NM_021629.3:c.204-4C>G	NP_067642.1:n.204-4C>G
XM_005247692.1:c.204-4C>G	XP_005247749.1:n.204-4C>G
XM_006713721.1:c.204-4C>G	XP_006713784.1:n.204-4C>G
XM_011513061.1:c.204-4C>G	XP_011511363.1:n.204-4C>G
XM_005247692.2:c.204-4C>G	XP_005247749.1:n.204-4C>G
XM_006713721.2:c.204-4C>G	XP_006713784.1:n.204-4C>G
NM_021629.4:c.204-4C>G MANE Select	NP_067642.1:n.204-4C>G