Canonical Allele Identifier: CA370315510

Gene: GATA4

Linked Data

• ClinVar Variation Id: 3098753
• ClinVar RCV Id: RCV004395118
• MyVariant Identifiers: chr8:g.11614591A>C (hg19) ; chr8:g.11757082A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11757082A>C , CM000670.2:g.11757082A>C	GRCh38
NC_000008.10:g.11614591A>C , CM000670.1:g.11614591A>C	GRCh37
NC_000008.9:g.11652000A>C	NCBI36
NG_008177.2:g.85164A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.1145A>C	ENSP00000482268.2:p.Gln382Pro
ENST00000532059.6:c.1148A>C MANE Select	ENSP00000435712.1:p.Gln383Pro
ENST00000335135.8:c.1145A>C	ENSP00000334458.4:p.Gln382Pro
ENST00000526021.1:n.590A>C
ENST00000526716.5:c.527A>C
ENST00000528712.5:c.527A>C	ENSP00000435043.1:p.Gln176Pro
ENST00000532059.5:c.1148A>C	ENSP00000435712.1:p.Gln383Pro
ENST00000622443.2:c.1142A>C	ENSP00000482268.1:p.Gln381Pro
NM_001308093.1:c.1148A>C	NP_001295022.1:p.Gln383Pro
NM_001308094.1:c.527A>C	NP_001295023.1:p.Gln176Pro
NM_002052.3:c.1145A>C	NP_002043.2:p.Gln382Pro
NM_002052.4:c.1145A>C	NP_002043.2:p.Gln382Pro
XM_005272385.3:c.1148A>C	XP_005272442.1:p.Gln383Pro
XM_005272386.1:c.1148A>C	XP_005272443.1:p.Gln383Pro
XM_006716248.1:c.1148A>C	XP_006716311.1:p.Gln383Pro
XM_011543817.1:c.1148A>C	XP_011542119.1:p.Gln383Pro
XM_011543818.1:c.1148A>C	XP_011542120.1:p.Gln383Pro
XM_005272385.4:c.1148A>C	XP_005272442.1:p.Gln383Pro
XM_011543817.3:c.1148A>C	XP_011542119.1:p.Gln383Pro
XM_011543818.2:c.1148A>C	XP_011542120.1:p.Gln383Pro
XM_017013312.2:c.1148A>C	XP_016868801.1:p.Gln383Pro
NM_001308093.3:c.1148A>C MANE Select	NP_001295022.1:p.Gln383Pro
NM_001308094.2:c.527A>C	NP_001295023.1:p.Gln176Pro
NM_001374273.1:c.527A>C	NP_001361202.1:p.Gln176Pro
NM_001374274.1:c.401A>C	NP_001361203.1:p.Gln134Pro
NM_002052.5:c.1145A>C	NP_002043.2:p.Gln382Pro