Canonical Allele Identifier: CA547896042

Gene: GNB4

Linked Data

• ClinVar Variation Id: 473896
• ClinVar RCV Id: RCV000535624
• dbSNP Id: rs1222924595
• gnomAD v2: 3-179138668-A-G
• gnomAD v3: 3-179420880-A-G
• gnomAD v4: 3-179420880-A-G
• MyVariant Identifiers: chr3:g.179138668A>G (hg19) ; chr3:g.179420880A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179420880A>G , CM000665.2:g.179420880A>G	GRCh38
NC_000003.11:g.179138668A>G , CM000665.1:g.179138668A>G	GRCh37
NC_000003.10:g.180621362A>G	NCBI36
NG_033163.1:g.35704T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000232564.8:c.96+9T>C MANE Select	ENSP00000232564.3:n.96+9T>C
ENST00000465153.2:c.96+9T>C	ENSP00000502010.1:n.96+9T>C
ENST00000466899.6:c.96+9T>C	ENSP00000420066.2:n.96+9T>C
ENST00000468623.6:c.58-1375T>C	ENSP00000419693.2:n.58-1375T>C
ENST00000674713.1:c.-13+9T>C	ENSP00000502144.1:n.-13+9T>C
ENST00000674862.1:c.96+9T>C	ENSP00000502628.1:n.96+9T>C
ENST00000674927.1:c.96+9T>C	ENSP00000501774.1:n.96+9T>C
ENST00000675901.1:c.96+9T>C	ENSP00000501992.1:n.96+9T>C
ENST00000676128.1:c.96+9T>C	ENSP00000501882.1:n.96+9T>C
ENST00000232564.7:c.96+9T>C	ENSP00000232564.3:n.96+9T>C
ENST00000468623.5:c.96+9T>C	ENSP00000419693.1:n.96+9T>C
ENST00000497513.1:c.96+9T>C	ENSP00000420606.1:n.96+9T>C
NM_021629.3:c.96+9T>C	NP_067642.1:n.96+9T>C
XM_005247692.1:c.96+9T>C	XP_005247749.1:n.96+9T>C
XM_006713721.1:c.96+9T>C	XP_006713784.1:n.96+9T>C
XM_011513061.1:c.96+9T>C	XP_011511363.1:n.96+9T>C
XM_005247692.2:c.96+9T>C	XP_005247749.1:n.96+9T>C
XM_006713721.2:c.96+9T>C	XP_006713784.1:n.96+9T>C
NM_021629.4:c.96+9T>C MANE Select	NP_067642.1:n.96+9T>C