Canonical Allele Identifier: CA355470292

Gene: GNB4

Linked Data

• ClinVar Variation Id: 1001722
• ClinVar RCV Id: RCV001298055
• dbSNP Id: rs387907341
• MyVariant Identifiers: chr3:g.179134283T>G (hg19) ; chr3:g.179416495T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.179416495T>G , CM000665.2:g.179416495T>G	GRCh38
NC_000003.11:g.179134283T>G , CM000665.1:g.179134283T>G	GRCh37
NC_000003.10:g.180616977T>G	NCBI36
NG_033163.1:g.40089A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000232564.8:c.265A>C MANE Select	ENSP00000232564.3:p.Lys89Gln
ENST00000465153.2:c.265A>C	ENSP00000502010.1:p.Lys89Gln
ENST00000466899.6:c.265A>C	ENSP00000420066.2:p.Lys89Gln
ENST00000468623.6:c.226A>C	ENSP00000419693.2:p.Lys76Gln
ENST00000674713.1:c.157A>C	ENSP00000502144.1:p.Lys53Gln
ENST00000674862.1:c.265A>C	ENSP00000502628.1:p.Lys89Gln
ENST00000674927.1:c.265A>C	ENSP00000501774.1:p.Lys89Gln
ENST00000675901.1:c.265A>C	ENSP00000501992.1:p.Lys89Gln
ENST00000676128.1:c.265A>C	ENSP00000501882.1:p.Lys89Gln
ENST00000232564.7:c.265A>C	ENSP00000232564.3:p.Lys89Gln
ENST00000466899.5:c.32A>C
ENST00000468623.5:c.265A>C	ENSP00000419693.1:p.Lys89Gln
NM_021629.3:c.265A>C	NP_067642.1:p.Lys89Gln
XM_005247692.1:c.265A>C	XP_005247749.1:p.Lys89Gln
XM_006713721.1:c.265A>C	XP_006713784.1:p.Lys89Gln
XM_011513061.1:c.265A>C	XP_011511363.1:p.Lys89Gln
XM_005247692.2:c.265A>C	XP_005247749.1:p.Lys89Gln
XM_006713721.2:c.265A>C	XP_006713784.1:p.Lys89Gln
NM_021629.4:c.265A>C MANE Select	NP_067642.1:p.Lys89Gln