Canonical Allele Identifier: CA4630761

Gene: GATA4

Linked Data

• ClinVar Variation Id: 1036914
• ClinVar RCV Id: RCV001339988
• dbSNP Id: rs138404762
• ExAC: 8:11612576 C / T
• gnomAD v2: 8-11612576-C-T
• gnomAD v3: 8-11755067-C-T
• gnomAD v4: 8-11755067-C-T
• MyVariant Identifiers: chr8:g.11612576C>T (hg19) ; chr8:g.11755067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11755067C>T , CM000670.2:g.11755067C>T	GRCh38
NC_000008.10:g.11612576C>T , CM000670.1:g.11612576C>T	GRCh37
NC_000008.9:g.11649985C>T	NCBI36
NG_008177.2:g.83149C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.931C>T	ENSP00000482268.2:p.Arg311Trp
ENST00000532059.6:c.934C>T MANE Select	ENSP00000435712.1:p.Arg312Trp
ENST00000335135.8:c.931C>T	ENSP00000334458.4:p.Arg311Trp
ENST00000526716.5:c.313C>T	ENSP00000435347.1:p.Arg105Trp
ENST00000528712.5:c.313C>T	ENSP00000435043.1:p.Arg105Trp
ENST00000532059.5:c.934C>T	ENSP00000435712.1:p.Arg312Trp
ENST00000622443.2:c.928C>T	ENSP00000482268.1:p.Arg310Trp
NM_001308093.1:c.934C>T	NP_001295022.1:p.Arg312Trp
NM_001308094.1:c.313C>T	NP_001295023.1:p.Arg105Trp
NM_002052.3:c.931C>T	NP_002043.2:p.Arg311Trp
NM_002052.4:c.931C>T	NP_002043.2:p.Arg311Trp
XM_005272385.3:c.934C>T	XP_005272442.1:p.Arg312Trp
XM_005272386.1:c.934C>T	XP_005272443.1:p.Arg312Trp
XM_006716248.1:c.934C>T	XP_006716311.1:p.Arg312Trp
XM_011543817.1:c.934C>T	XP_011542119.1:p.Arg312Trp
XM_011543818.1:c.934C>T	XP_011542120.1:p.Arg312Trp
XM_005272385.4:c.934C>T	XP_005272442.1:p.Arg312Trp
XM_011543817.3:c.934C>T	XP_011542119.1:p.Arg312Trp
XM_011543818.2:c.934C>T	XP_011542120.1:p.Arg312Trp
XM_017013312.2:c.934C>T	XP_016868801.1:p.Arg312Trp
NM_001308093.3:c.934C>T MANE Select	NP_001295022.1:p.Arg312Trp
NM_001308094.2:c.313C>T	NP_001295023.1:p.Arg105Trp
NM_001374273.1:c.313C>T	NP_001361202.1:p.Arg105Trp
NM_001374274.1:c.187C>T	NP_001361203.1:p.Arg63Trp
NM_002052.5:c.931C>T	NP_002043.2:p.Arg311Trp