Canonical Allele Identifier: CA172120467

Gene: GATA4

Linked Data

• dbSNP Id: rs781488882
• gnomAD v4: 8-11757062-G-C
• MyVariant Identifiers: chr8:g.11614571G>C (hg19) ; chr8:g.11757062G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11757062G>C , CM000670.2:g.11757062G>C	GRCh38
NC_000008.10:g.11614571G>C , CM000670.1:g.11614571G>C	GRCh37
NC_000008.9:g.11651980G>C	NCBI36
NG_008177.2:g.85144G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.1125G>C	ENSP00000482268.2:p.Gly375=
ENST00000532059.6:c.1128G>C MANE Select	ENSP00000435712.1:p.Gly376=
ENST00000335135.8:c.1125G>C	ENSP00000334458.4:p.Gly375=
ENST00000526021.1:n.570G>C
ENST00000526716.5:c.507G>C	ENSP00000435347.1:p.Gly169=
ENST00000528712.5:c.507G>C	ENSP00000435043.1:p.Gly169=
ENST00000532059.5:c.1128G>C	ENSP00000435712.1:p.Gly376=
ENST00000622443.2:c.1122G>C	ENSP00000482268.1:p.Gly374=
NM_001308093.1:c.1128G>C	NP_001295022.1:p.Gly376=
NM_001308094.1:c.507G>C	NP_001295023.1:p.Gly169=
NM_002052.3:c.1125G>C	NP_002043.2:p.Gly375=
NM_002052.4:c.1125G>C	NP_002043.2:p.Gly375=
XM_005272385.3:c.1128G>C	XP_005272442.1:p.Gly376=
XM_005272386.1:c.1128G>C	XP_005272443.1:p.Gly376=
XM_006716248.1:c.1128G>C	XP_006716311.1:p.Gly376=
XM_011543817.1:c.1128G>C	XP_011542119.1:p.Gly376=
XM_011543818.1:c.1128G>C	XP_011542120.1:p.Gly376=
XM_005272385.4:c.1128G>C	XP_005272442.1:p.Gly376=
XM_011543817.3:c.1128G>C	XP_011542119.1:p.Gly376=
XM_011543818.2:c.1128G>C	XP_011542120.1:p.Gly376=
XM_017013312.2:c.1128G>C	XP_016868801.1:p.Gly376=
NM_001308093.3:c.1128G>C MANE Select	NP_001295022.1:p.Gly376=
NM_001308094.2:c.507G>C	NP_001295023.1:p.Gly169=
NM_001374273.1:c.507G>C	NP_001361202.1:p.Gly169=
NM_001374274.1:c.381G>C	NP_001361203.1:p.Gly127=
NM_002052.5:c.1125G>C	NP_002043.2:p.Gly375=