Canonical Allele Identifier: CA370308657

Gene: GATA4

Linked Data

• ClinVar Variation Id: 1481834
• ClinVar RCV Id: RCV002025031
• dbSNP Id: rs1139240
• gnomAD v2: 8-11565876-G-A
• gnomAD v3: 8-11708367-G-A
• gnomAD v4: 8-11708367-G-A
• MyVariant Identifiers: chr8:g.11565876G>A (hg19) ; chr8:g.11708367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11708367G>A , CM000670.2:g.11708367G>A	GRCh38
NC_000008.10:g.11565876G>A , CM000670.1:g.11565876G>A	GRCh37
NC_000008.9:g.11603285G>A	NCBI36
NG_008177.2:g.36449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.55G>A	ENSP00000482268.2:p.Glu19Lys
ENST00000532059.6:c.55G>A MANE Select	ENSP00000435712.1:p.Glu19Lys
ENST00000335135.8:c.55G>A	ENSP00000334458.4:p.Glu19Lys
ENST00000526716.5:c.-6+4063G>A	ENSP00000435347.1:n.-6+4063G>A
ENST00000526974.1:c.55G>A	ENSP00000473598.1:p.Glu19Lys
ENST00000528027.1:c.55G>A	ENSP00000432278.1:p.Glu19Lys
ENST00000528712.5:c.-6+7589G>A	ENSP00000435043.1:n.-6+7589G>A
ENST00000532059.5:c.55G>A	ENSP00000435712.1:p.Glu19Lys
ENST00000622443.2:c.54G>A	ENSP00000482268.1:p.Thr18=
NM_001308093.1:c.55G>A	NP_001295022.1:p.Glu19Lys
NM_001308094.1:c.-6+7589G>A	NP_001295023.1:n.-6+7589G>A
NM_002052.3:c.55G>A	NP_002043.2:p.Glu19Lys
NM_002052.4:c.55G>A	NP_002043.2:p.Glu19Lys
XM_005272385.3:c.55G>A	XP_005272442.1:p.Glu19Lys
XM_005272386.1:c.55G>A	XP_005272443.1:p.Glu19Lys
XM_006716248.1:c.55G>A	XP_006716311.1:p.Glu19Lys
XM_011543817.1:c.55G>A	XP_011542119.1:p.Glu19Lys
XM_011543818.1:c.55G>A	XP_011542120.1:p.Glu19Lys
XM_005272385.4:c.55G>A	XP_005272442.1:p.Glu19Lys
XM_011543817.3:c.55G>A	XP_011542119.1:p.Glu19Lys
XM_011543818.2:c.55G>A	XP_011542120.1:p.Glu19Lys
XM_017013312.2:c.55G>A	XP_016868801.1:p.Glu19Lys
NM_001308093.3:c.55G>A MANE Select	NP_001295022.1:p.Glu19Lys
NM_001308094.2:c.-6+7589G>A	NP_001295023.1:n.-6+7589G>A
NM_001374273.1:c.-3+4063G>A	NP_001361202.1:n.-3+4063G>A
NM_001374274.1:c.-3+353G>A	NP_001361203.1:n.-3+353G>A
NM_002052.5:c.55G>A	NP_002043.2:p.Glu19Lys