Canonical Allele Identifier: CA4630793

Gene: GATA4

Linked Data

• dbSNP Id: rs376339779
• ExAC: 8:11614421 G / A
• gnomAD v2: 8-11614421-G-A
• gnomAD v3: 8-11756912-G-A
• gnomAD v4: 8-11756912-G-A
• MyVariant Identifiers: chr8:g.11614421G>A (hg19) ; chr8:g.11756912G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11756912G>A , CM000670.2:g.11756912G>A	GRCh38
NC_000008.10:g.11614421G>A , CM000670.1:g.11614421G>A	GRCh37
NC_000008.9:g.11651830G>A	NCBI36
NG_008177.2:g.84994G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.998-23G>A	ENSP00000482268.2:n.998-23G>A
ENST00000532059.6:c.1001-23G>A MANE Select	ENSP00000435712.1:n.1001-23G>A
ENST00000335135.8:c.998-23G>A	ENSP00000334458.4:n.998-23G>A
ENST00000526021.1:n.420G>A
ENST00000526716.5:c.380-23G>A	ENSP00000435347.1:n.380-23G>A
ENST00000528712.5:c.380-23G>A	ENSP00000435043.1:n.380-23G>A
ENST00000532059.5:c.1001-23G>A	ENSP00000435712.1:n.1001-23G>A
ENST00000622443.2:c.995-23G>A	ENSP00000482268.1:n.995-23G>A
NM_001308093.1:c.1001-23G>A	NP_001295022.1:n.1001-23G>A
NM_001308094.1:c.380-23G>A	NP_001295023.1:n.380-23G>A
NM_002052.3:c.998-23G>A	NP_002043.2:n.998-23G>A
NM_002052.4:c.998-23G>A	NP_002043.2:n.998-23G>A
XM_005272385.3:c.1001-23G>A	XP_005272442.1:n.1001-23G>A
XM_005272386.1:c.1001-23G>A	XP_005272443.1:n.1001-23G>A
XM_006716248.1:c.1001-23G>A	XP_006716311.1:n.1001-23G>A
XM_011543817.1:c.1001-23G>A	XP_011542119.1:n.1001-23G>A
XM_011543818.1:c.1001-23G>A	XP_011542120.1:n.1001-23G>A
XM_005272385.4:c.1001-23G>A	XP_005272442.1:n.1001-23G>A
XM_011543817.3:c.1001-23G>A	XP_011542119.1:n.1001-23G>A
XM_011543818.2:c.1001-23G>A	XP_011542120.1:n.1001-23G>A
XM_017013312.2:c.1001-23G>A	XP_016868801.1:n.1001-23G>A
NM_001308093.3:c.1001-23G>A MANE Select	NP_001295022.1:n.1001-23G>A
NM_001308094.2:c.380-23G>A	NP_001295023.1:n.380-23G>A
NM_001374273.1:c.380-23G>A	NP_001361202.1:n.380-23G>A
NM_001374274.1:c.254-23G>A	NP_001361203.1:n.254-23G>A
NM_002052.5:c.998-23G>A	NP_002043.2:n.998-23G>A