Canonical Allele Identifier: CA4630914

Gene: GATA4

Linked Data

• ClinVar Variation Id: 404064
• ClinVar RCV Id: RCV001662416 ; RCV002522764
• dbSNP Id: rs146017816
• ExAC: 8:11615980 C / G
• gnomAD v2: 8-11615980-C-G
• gnomAD v3: 8-11758471-C-G
• gnomAD v4: 8-11758471-C-G
• MyVariant Identifiers: chr8:g.11615980C>G (hg19) ; chr8:g.11758471C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11758471C>G , CM000670.2:g.11758471C>G	GRCh38
NC_000008.10:g.11615980C>G , CM000670.1:g.11615980C>G	GRCh37
NC_000008.9:g.11653389C>G	NCBI36
NG_008177.2:g.86553C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.1325C>G	ENSP00000482268.2:p.Ala442Gly
ENST00000532059.6:c.1328C>G MANE Select	ENSP00000435712.1:p.Ala443Gly
ENST00000335135.8:c.1325C>G	ENSP00000334458.4:p.Ala442Gly
ENST00000526021.1:n.770C>G
ENST00000528712.5:c.707C>G	ENSP00000435043.1:p.Ala236Gly
ENST00000532059.5:c.1328C>G	ENSP00000435712.1:p.Ala443Gly
ENST00000622443.2:c.1322C>G	ENSP00000482268.1:p.Ala441Gly
NM_001308093.1:c.1328C>G	NP_001295022.1:p.Ala443Gly
NM_001308094.1:c.707C>G	NP_001295023.1:p.Ala236Gly
NM_002052.3:c.1325C>G	NP_002043.2:p.Ala442Gly
NM_002052.4:c.1325C>G	NP_002043.2:p.Ala442Gly
XM_005272385.3:c.1328C>G	XP_005272442.1:p.Ala443Gly
XM_005272386.1:c.1328C>G	XP_005272443.1:p.Ala443Gly
XM_006716248.1:c.1328C>G	XP_006716311.1:p.Ala443Gly
XM_011543817.1:c.1328C>G	XP_011542119.1:p.Ala443Gly
XM_011543818.1:c.1328C>G	XP_011542120.1:p.Ala443Gly
XM_005272385.4:c.1328C>G	XP_005272442.1:p.Ala443Gly
XM_011543817.3:c.1328C>G	XP_011542119.1:p.Ala443Gly
XM_011543818.2:c.1328C>G	XP_011542120.1:p.Ala443Gly
XM_017013312.2:c.1328C>G	XP_016868801.1:p.Ala443Gly
NM_001308093.3:c.1328C>G MANE Select	NP_001295022.1:p.Ala443Gly
NM_001308094.2:c.707C>G	NP_001295023.1:p.Ala236Gly
NM_001374273.1:c.707C>G	NP_001361202.1:p.Ala236Gly
NM_001374274.1:c.581C>G	NP_001361203.1:p.Ala194Gly
NM_002052.5:c.1325C>G	NP_002043.2:p.Ala442Gly