Canonical Allele Identifier: CA4630762

Gene: GATA4

Linked Data

• ClinVar Variation Id: 472784
• ClinVar RCV Id: RCV000557722 ; RCV001540479 ; RCV002506364 ; RCV003419984
• dbSNP Id: rs372407808
• ExAC: 8:11612584 G / T
• gnomAD v2: 8-11612584-G-T
• gnomAD v3: 8-11755075-G-T
• gnomAD v4: 8-11755075-G-T
• MyVariant Identifiers: chr8:g.11612584G>T (hg19) ; chr8:g.11755075G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11755075G>T , CM000670.2:g.11755075G>T	GRCh38
NC_000008.10:g.11612584G>T , CM000670.1:g.11612584G>T	GRCh37
NC_000008.9:g.11649993G>T	NCBI36
NG_008177.2:g.83157G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.939G>T	ENSP00000482268.2:p.Glu313Asp
ENST00000532059.6:c.942G>T MANE Select	ENSP00000435712.1:p.Glu314Asp
ENST00000335135.8:c.939G>T	ENSP00000334458.4:p.Glu313Asp
ENST00000526716.5:c.321G>T	ENSP00000435347.1:p.Glu107Asp
ENST00000528712.5:c.321G>T	ENSP00000435043.1:p.Glu107Asp
ENST00000532059.5:c.942G>T	ENSP00000435712.1:p.Glu314Asp
ENST00000622443.2:c.936G>T	ENSP00000482268.1:p.Glu312Asp
NM_001308093.1:c.942G>T	NP_001295022.1:p.Glu314Asp
NM_001308094.1:c.321G>T	NP_001295023.1:p.Glu107Asp
NM_002052.3:c.939G>T	NP_002043.2:p.Glu313Asp
NM_002052.4:c.939G>T	NP_002043.2:p.Glu313Asp
XM_005272385.3:c.942G>T	XP_005272442.1:p.Glu314Asp
XM_005272386.1:c.942G>T	XP_005272443.1:p.Glu314Asp
XM_006716248.1:c.942G>T	XP_006716311.1:p.Glu314Asp
XM_011543817.1:c.942G>T	XP_011542119.1:p.Glu314Asp
XM_011543818.1:c.942G>T	XP_011542120.1:p.Glu314Asp
XM_005272385.4:c.942G>T	XP_005272442.1:p.Glu314Asp
XM_011543817.3:c.942G>T	XP_011542119.1:p.Glu314Asp
XM_011543818.2:c.942G>T	XP_011542120.1:p.Glu314Asp
XM_017013312.2:c.942G>T	XP_016868801.1:p.Glu314Asp
NM_001308093.3:c.942G>T MANE Select	NP_001295022.1:p.Glu314Asp
NM_001308094.2:c.321G>T	NP_001295023.1:p.Glu107Asp
NM_001374273.1:c.321G>T	NP_001361202.1:p.Glu107Asp
NM_001374274.1:c.195G>T	NP_001361203.1:p.Glu65Asp
NM_002052.5:c.939G>T	NP_002043.2:p.Glu313Asp