Canonical Allele Identifier: CA347951

Gene: GATA4

Linked Data

• ClinVar Variation Id: 219230
• ClinVar RCV Id: RCV000203594
• dbSNP Id: rs864321702
• MyVariant Identifiers: chr8:g.11606493T>A (hg19) ; chr8:g.11748984T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11748984T>A , CM000670.2:g.11748984T>A	GRCh38
NC_000008.10:g.11606493T>A , CM000670.1:g.11606493T>A	GRCh37
NC_000008.9:g.11643902T>A	NCBI36
NG_008177.2:g.77066T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.682T>A	ENSP00000482268.2:p.Trp228Arg
ENST00000532059.6:c.685T>A MANE Select	ENSP00000435712.1:p.Trp229Arg
ENST00000335135.8:c.682T>A	ENSP00000334458.4:p.Trp228Arg
ENST00000526716.5:c.64T>A	ENSP00000435347.1:p.Trp22Arg
ENST00000528712.5:c.64T>A	ENSP00000435043.1:p.Trp22Arg
ENST00000532059.5:c.685T>A	ENSP00000435712.1:p.Trp229Arg
ENST00000622443.2:c.679T>A	ENSP00000482268.1:p.Trp227Arg
NM_001308093.1:c.685T>A	NP_001295022.1:p.Trp229Arg
NM_001308094.1:c.64T>A	NP_001295023.1:p.Trp22Arg
NM_002052.3:c.682T>A	NP_002043.2:p.Trp228Arg
NM_002052.4:c.682T>A	NP_002043.2:p.Trp228Arg
XM_005272385.3:c.685T>A	XP_005272442.1:p.Trp229Arg
XM_005272386.1:c.685T>A	XP_005272443.1:p.Trp229Arg
XM_006716248.1:c.685T>A	XP_006716311.1:p.Trp229Arg
XM_011543817.1:c.685T>A	XP_011542119.1:p.Trp229Arg
XM_011543818.1:c.685T>A	XP_011542120.1:p.Trp229Arg
XM_005272385.4:c.685T>A	XP_005272442.1:p.Trp229Arg
XM_011543817.3:c.685T>A	XP_011542119.1:p.Trp229Arg
XM_011543818.2:c.685T>A	XP_011542120.1:p.Trp229Arg
XM_017013312.2:c.685T>A	XP_016868801.1:p.Trp229Arg
NM_001308093.3:c.685T>A MANE Select	NP_001295022.1:p.Trp229Arg
NM_001308094.2:c.64T>A	NP_001295023.1:p.Trp22Arg
NM_001374273.1:c.64T>A	NP_001361202.1:p.Trp22Arg
NM_001374274.1:c.64T>A	NP_001361203.1:p.Trp22Arg
NM_002052.5:c.682T>A	NP_002043.2:p.Trp228Arg