Canonical Allele Identifier: CA172121445

Gene: GATA4

Linked Data

• ClinVar Variation Id: 849443
• ClinVar RCV Id: RCV001053405 ; RCV001334993 ; RCV001574796 ; RCV001819774
• dbSNP Id: rs909187176
• gnomAD v2: 8-11615884-A-T
• gnomAD v3: 8-11758375-A-T
• gnomAD v4: 8-11758375-A-T
• MyVariant Identifiers: chr8:g.11615884A>T (hg19) ; chr8:g.11758375A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11758375A>T , CM000670.2:g.11758375A>T	GRCh38
NC_000008.10:g.11615884A>T , CM000670.1:g.11615884A>T	GRCh37
NC_000008.9:g.11653293A>T	NCBI36
NG_008177.2:g.86457A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.1229A>T	ENSP00000482268.2:p.Tyr410Phe
ENST00000532059.6:c.1232A>T MANE Select	ENSP00000435712.1:p.Tyr411Phe
ENST00000335135.8:c.1229A>T	ENSP00000334458.4:p.Tyr410Phe
ENST00000526021.1:n.674A>T
ENST00000528712.5:c.611A>T	ENSP00000435043.1:p.Tyr204Phe
ENST00000532059.5:c.1232A>T	ENSP00000435712.1:p.Tyr411Phe
ENST00000622443.2:c.1226A>T	ENSP00000482268.1:p.Tyr409Phe
NM_001308093.1:c.1232A>T	NP_001295022.1:p.Tyr411Phe
NM_001308094.1:c.611A>T	NP_001295023.1:p.Tyr204Phe
NM_002052.3:c.1229A>T	NP_002043.2:p.Tyr410Phe
NM_002052.4:c.1229A>T	NP_002043.2:p.Tyr410Phe
XM_005272385.3:c.1232A>T	XP_005272442.1:p.Tyr411Phe
XM_005272386.1:c.1232A>T	XP_005272443.1:p.Tyr411Phe
XM_006716248.1:c.1232A>T	XP_006716311.1:p.Tyr411Phe
XM_011543817.1:c.1232A>T	XP_011542119.1:p.Tyr411Phe
XM_011543818.1:c.1232A>T	XP_011542120.1:p.Tyr411Phe
XM_005272385.4:c.1232A>T	XP_005272442.1:p.Tyr411Phe
XM_011543817.3:c.1232A>T	XP_011542119.1:p.Tyr411Phe
XM_011543818.2:c.1232A>T	XP_011542120.1:p.Tyr411Phe
XM_017013312.2:c.1232A>T	XP_016868801.1:p.Tyr411Phe
NM_001308093.3:c.1232A>T MANE Select	NP_001295022.1:p.Tyr411Phe
NM_001308094.2:c.611A>T	NP_001295023.1:p.Tyr204Phe
NM_001374273.1:c.611A>T	NP_001361202.1:p.Tyr204Phe
NM_001374274.1:c.485A>T	NP_001361203.1:p.Tyr162Phe
NM_002052.5:c.1229A>T	NP_002043.2:p.Tyr410Phe