Canonical Allele Identifier: CA4630722

Gene: GATA4

Linked Data

• ClinVar Variation Id: 651064
• ClinVar RCV Id: RCV001702718
• dbSNP Id: rs116430078
• ExAC: 8:11607693 C / T
• gnomAD v2: 8-11607693-C-T
• gnomAD v3: 8-11750184-C-T
• gnomAD v4: 8-11750184-C-T
• MyVariant Identifiers: chr8:g.11607693C>T (hg19) ; chr8:g.11750184C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11750184C>T , CM000670.2:g.11750184C>T	GRCh38
NC_000008.10:g.11607693C>T , CM000670.1:g.11607693C>T	GRCh37
NC_000008.9:g.11645102C>T	NCBI36
NG_008177.2:g.78266C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.857C>T	ENSP00000482268.2:p.Ala286Val
ENST00000532059.6:c.860C>T MANE Select	ENSP00000435712.1:p.Ala287Val
ENST00000335135.8:c.857C>T	ENSP00000334458.4:p.Ala286Val
ENST00000526716.5:c.239C>T	ENSP00000435347.1:p.Ala80Val
ENST00000528712.5:c.239C>T	ENSP00000435043.1:p.Ala80Val
ENST00000532059.5:c.860C>T	ENSP00000435712.1:p.Ala287Val
ENST00000622443.2:c.854C>T	ENSP00000482268.1:p.Ala285Val
NM_001308093.1:c.860C>T	NP_001295022.1:p.Ala287Val
NM_001308094.1:c.239C>T	NP_001295023.1:p.Ala80Val
NM_002052.3:c.857C>T	NP_002043.2:p.Ala286Val
NM_002052.4:c.857C>T	NP_002043.2:p.Ala286Val
XM_005272385.3:c.860C>T	XP_005272442.1:p.Ala287Val
XM_005272386.1:c.860C>T	XP_005272443.1:p.Ala287Val
XM_006716248.1:c.860C>T	XP_006716311.1:p.Ala287Val
XM_011543817.1:c.860C>T	XP_011542119.1:p.Ala287Val
XM_011543818.1:c.860C>T	XP_011542120.1:p.Ala287Val
XM_005272385.4:c.860C>T	XP_005272442.1:p.Ala287Val
XM_011543817.3:c.860C>T	XP_011542119.1:p.Ala287Val
XM_011543818.2:c.860C>T	XP_011542120.1:p.Ala287Val
XM_017013312.2:c.860C>T	XP_016868801.1:p.Ala287Val
NM_001308093.3:c.860C>T MANE Select	NP_001295022.1:p.Ala287Val
NM_001308094.2:c.239C>T	NP_001295023.1:p.Ala80Val
NM_001374273.1:c.239C>T	NP_001361202.1:p.Ala80Val
NM_001374274.1:c.165+1099C>T	NP_001361203.1:n.165+1099C>T
NM_002052.5:c.857C>T	NP_002043.2:p.Ala286Val