Canonical Allele Identifier: CA459311217

Gene: GATA4

Linked Data

• dbSNP Id: rs1289110520
• gnomAD v2: 8-11607661-GACC-G
• gnomAD v4: 8-11750152-GACC-G
• MyVariant Identifiers: chr8:g.11607662_11607664del (hg19) ; chr8:g.11750153_11750155del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11750164_11750166del , CM000670.2:g.11750164_11750166del	GRCh38
NC_000008.10:g.11607673_11607675del , CM000670.1:g.11607673_11607675del	GRCh37
NC_000008.9:g.11645082_11645084del	NCBI36
NG_008177.2:g.78246_78248del

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.837_839del	ENSP00000482268.2:p.Thr280del
ENST00000532059.6:c.840_842del MANE Select	ENSP00000435712.1:p.Thr281del
ENST00000335135.8:c.837_839del	ENSP00000334458.4:p.Thr280del
ENST00000526716.5:c.219_221del	ENSP00000435347.1:p.Thr74del
ENST00000528712.5:c.219_221del	ENSP00000435043.1:p.Thr74del
ENST00000532059.5:c.840_842del	ENSP00000435712.1:p.Thr281del
ENST00000622443.2:c.834_836del	ENSP00000482268.1:p.Thr279del
NM_001308093.1:c.840_842del	NP_001295022.1:p.Thr281del
NM_001308094.1:c.219_221del	NP_001295023.1:p.Thr74del
NM_002052.3:c.837_839del	NP_002043.2:p.Thr280del
NM_002052.4:c.837_839del	NP_002043.2:p.Thr280del
XM_005272385.3:c.840_842del	XP_005272442.1:p.Thr281del
XM_005272386.1:c.840_842del	XP_005272443.1:p.Thr281del
XM_006716248.1:c.840_842del	XP_006716311.1:p.Thr281del
XM_011543817.1:c.840_842del	XP_011542119.1:p.Thr281del
XM_011543818.1:c.840_842del	XP_011542120.1:p.Thr281del
XM_005272385.4:c.840_842del	XP_005272442.1:p.Thr281del
XM_011543817.3:c.840_842del	XP_011542119.1:p.Thr281del
XM_011543818.2:c.840_842del	XP_011542120.1:p.Thr281del
XM_017013312.2:c.840_842del	XP_016868801.1:p.Thr281del
NM_001308093.3:c.840_842del MANE Select	NP_001295022.1:p.Thr281del
NM_001308094.2:c.219_221del	NP_001295023.1:p.Thr74del
NM_001374273.1:c.219_221del	NP_001361202.1:p.Thr74del
NM_001374274.1:c.165+1079_165+1081del	NP_001361203.1:n.165+1079_165+1081del
NM_002052.5:c.837_839del	NP_002043.2:p.Thr280del