Canonical Allele Identifier: CA913184949

Gene: GATA4

Linked Data

• ClinVar Variation Id: 9031
• ClinVar RCV Id: RCV000009597
• dbSNP Id: rs1585703301

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11757012del , CM000670.2:g.11757012del	GRCh38
NC_000008.10:g.11614521del , CM000670.1:g.11614521del	GRCh37
NC_000008.9:g.11651930del	NCBI36
NG_008177.2:g.85094del

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.1075del	ENSP00000482268.2:p.Glu359ArgfsTer?
ENST00000532059.6:c.1078del MANE Select	ENSP00000435712.1:p.Glu360ArgfsTer?
ENST00000335135.8:c.1075del	ENSP00000334458.4:p.Glu359ArgfsTer?
ENST00000526021.1:n.520del
ENST00000526716.5:c.457del	ENSP00000435347.1:p.Glu153ArgfsTer?
ENST00000528712.5:c.457del	ENSP00000435043.1:p.Glu153ArgfsTer?
ENST00000532059.5:c.1078del	ENSP00000435712.1:p.Glu360ArgfsTer?
ENST00000622443.2:c.1072del	ENSP00000482268.1:p.Glu358ArgfsTer?
NM_001308093.1:c.1078del	NP_001295022.1:p.Glu360ArgfsTer?
NM_001308094.1:c.457del	NP_001295023.1:p.Glu153ArgfsTer?
NM_002052.3:c.1075del	NP_002043.2:p.Glu359ArgfsTer?
NM_002052.4:c.1075del	NP_002043.2:p.Glu359ArgfsTer?
XM_005272385.3:c.1078del	XP_005272442.1:p.Glu360ArgfsTer?
XM_005272386.1:c.1078del	XP_005272443.1:p.Glu360ArgfsTer?
XM_006716248.1:c.1078del	XP_006716311.1:p.Glu360ArgfsTer?
XM_011543817.1:c.1078del	XP_011542119.1:p.Glu360ArgfsTer?
XM_011543818.1:c.1078del	XP_011542120.1:p.Glu360ArgfsTer?
XM_005272385.4:c.1078del	XP_005272442.1:p.Glu360ArgfsTer?
XM_011543817.3:c.1078del	XP_011542119.1:p.Glu360ArgfsTer?
XM_011543818.2:c.1078del	XP_011542120.1:p.Glu360ArgfsTer?
XM_017013312.2:c.1078del	XP_016868801.1:p.Glu360ArgfsTer?
NM_001308093.3:c.1078del MANE Select	NP_001295022.1:p.Glu360ArgfsTer?
NM_001308094.2:c.457del	NP_001295023.1:p.Glu153ArgfsTer?
NM_001374273.1:c.457del	NP_001361202.1:p.Glu153ArgfsTer?
NM_001374274.1:c.331del	NP_001361203.1:p.Glu111ArgfsTer?
NM_002052.5:c.1075del	NP_002043.2:p.Glu359ArgfsTer?