Canonical Allele Identifier: CA1110738457

Gene: GATA4

Linked Data

• ClinVar Variation Id: 972303
• ClinVar RCV Id: RCV001248299
• dbSNP Id: rs1800012863
• gnomAD v3: 8-11708663-G-GGCGGCCGCCGCCGCCGCTGCCGCGGCCCGGGAAGCT
• gnomAD v4: 8-11708663-G-GGCGGCCGCCGCCGCCGCTGCCGCGGCCCGGGAAGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11708670_11708705dup , CM000670.2:g.11708670_11708705dup	GRCh38
NC_000008.10:g.11566179_11566214dup , CM000670.1:g.11566179_11566214dup	GRCh37
NC_000008.9:g.11603588_11603623dup	NCBI36
NG_008177.2:g.36752_36787dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.358_393dup	ENSP00000482268.2:p.Ala131_Tyr132insAlaAl...
ENST00000532059.6:c.358_393dup MANE Select	ENSP00000435712.1:p.Ala131_Tyr132insAlaAl...
ENST00000335135.8:c.358_393dup	ENSP00000334458.4:p.Ala131_Tyr132insAlaAl...
ENST00000526716.5:c.-6+4366_-6+4401dup	ENSP00000435347.1:n.-6+4366_-6+4401dup
ENST00000528712.5:c.-6+7892_-6+7927dup	ENSP00000435043.1:n.-6+7892_-6+7927dup
ENST00000532059.5:c.358_393dup	ENSP00000435712.1:p.Ala131_Tyr132insAlaAl...
ENST00000622443.2:c.355_390dup	ENSP00000482268.1:p.Ala130_Tyr131insAlaAl...
NM_001308093.1:c.358_393dup	NP_001295022.1:p.Ala131_Tyr132insAlaAlaAl...
NM_001308094.1:c.-6+7892_-6+7927dup	NP_001295023.1:n.-6+7892_-6+7927dup
NM_002052.3:c.358_393dup	NP_002043.2:p.Ala131_Tyr132insAlaAlaAlaAl...
NM_002052.4:c.358_393dup	NP_002043.2:p.Ala131_Tyr132insAlaAlaAlaAl...
XM_005272385.3:c.358_393dup	XP_005272442.1:p.Ala131_Tyr132insAlaAlaAl...
XM_005272386.1:c.358_393dup	XP_005272443.1:p.Ala131_Tyr132insAlaAlaAl...
XM_006716248.1:c.358_393dup	XP_006716311.1:p.Ala131_Tyr132insAlaAlaAl...
XM_011543817.1:c.358_393dup	XP_011542119.1:p.Ala131_Tyr132insAlaAlaAl...
XM_011543818.1:c.358_393dup	XP_011542120.1:p.Ala131_Tyr132insAlaAlaAl...
XM_005272385.4:c.358_393dup	XP_005272442.1:p.Ala131_Tyr132insAlaAlaAl...
XM_011543817.3:c.358_393dup	XP_011542119.1:p.Ala131_Tyr132insAlaAlaAl...
XM_011543818.2:c.358_393dup	XP_011542120.1:p.Ala131_Tyr132insAlaAlaAl...
XM_017013312.2:c.358_393dup	XP_016868801.1:p.Ala131_Tyr132insAlaAlaAl...
NM_001308093.3:c.358_393dup MANE Select	NP_001295022.1:p.Ala131_Tyr132insAlaAlaAl...
NM_001308094.2:c.-6+7892_-6+7927dup	NP_001295023.1:n.-6+7892_-6+7927dup
NM_001374273.1:c.-3+4366_-3+4401dup	NP_001361202.1:n.-3+4366_-3+4401dup
NM_001374274.1:c.-3+656_-3+691dup	NP_001361203.1:n.-3+656_-3+691dup
NM_002052.5:c.358_393dup	NP_002043.2:p.Ala131_Tyr132insAlaAlaAlaAl...