Canonical Allele Identifier: CA370314453

Gene: GATA4

Linked Data

• ClinVar Variation Id: 472785
• ClinVar RCV Id: RCV000536027
• dbSNP Id: rs1554498346
• MyVariant Identifiers: chr8:g.11612598G>A (hg19) ; chr8:g.11755089G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11755089G>A , CM000670.2:g.11755089G>A	GRCh38
NC_000008.10:g.11612598G>A , CM000670.1:g.11612598G>A	GRCh37
NC_000008.9:g.11650007G>A	NCBI36
NG_008177.2:g.83171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.953G>A	ENSP00000482268.2:p.Arg318Lys
ENST00000532059.6:c.956G>A MANE Select	ENSP00000435712.1:p.Arg319Lys
ENST00000335135.8:c.953G>A	ENSP00000334458.4:p.Arg318Lys
ENST00000526716.5:c.335G>A	ENSP00000435347.1:p.Arg112Lys
ENST00000528712.5:c.335G>A	ENSP00000435043.1:p.Arg112Lys
ENST00000532059.5:c.956G>A	ENSP00000435712.1:p.Arg319Lys
ENST00000622443.2:c.950G>A	ENSP00000482268.1:p.Arg317Lys
NM_001308093.1:c.956G>A	NP_001295022.1:p.Arg319Lys
NM_001308094.1:c.335G>A	NP_001295023.1:p.Arg112Lys
NM_002052.3:c.953G>A	NP_002043.2:p.Arg318Lys
NM_002052.4:c.953G>A	NP_002043.2:p.Arg318Lys
XM_005272385.3:c.956G>A	XP_005272442.1:p.Arg319Lys
XM_005272386.1:c.956G>A	XP_005272443.1:p.Arg319Lys
XM_006716248.1:c.956G>A	XP_006716311.1:p.Arg319Lys
XM_011543817.1:c.956G>A	XP_011542119.1:p.Arg319Lys
XM_011543818.1:c.956G>A	XP_011542120.1:p.Arg319Lys
XM_005272385.4:c.956G>A	XP_005272442.1:p.Arg319Lys
XM_011543817.3:c.956G>A	XP_011542119.1:p.Arg319Lys
XM_011543818.2:c.956G>A	XP_011542120.1:p.Arg319Lys
XM_017013312.2:c.956G>A	XP_016868801.1:p.Arg319Lys
NM_001308093.3:c.956G>A MANE Select	NP_001295022.1:p.Arg319Lys
NM_001308094.2:c.335G>A	NP_001295023.1:p.Arg112Lys
NM_001374273.1:c.335G>A	NP_001361202.1:p.Arg112Lys
NM_001374274.1:c.209G>A	NP_001361203.1:p.Arg70Lys
NM_002052.5:c.953G>A	NP_002043.2:p.Arg318Lys