Canonical Allele Identifier: CA4630674

Gene: GATA4

Linked Data

• ClinVar Variation Id: 1979029
• ClinVar RCV Id: RCV002742004
• dbSNP Id: rs753457161
• ExAC: 8:11606581 C / G
• gnomAD v2: 8-11606581-C-G
• gnomAD v4: 8-11749072-C-G
• MyVariant Identifiers: chr8:g.11606581C>G (hg19) ; chr8:g.11749072C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11749072C>G , CM000670.2:g.11749072C>G	GRCh38
NC_000008.10:g.11606581C>G , CM000670.1:g.11606581C>G	GRCh37
NC_000008.9:g.11643990C>G	NCBI36
NG_008177.2:g.77154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.770C>G	ENSP00000482268.2:p.Pro257Arg
ENST00000532059.6:c.773C>G MANE Select	ENSP00000435712.1:p.Pro258Arg
ENST00000335135.8:c.770C>G	ENSP00000334458.4:p.Pro257Arg
ENST00000526716.5:c.152C>G	ENSP00000435347.1:p.Pro51Arg
ENST00000528712.5:c.152C>G	ENSP00000435043.1:p.Pro51Arg
ENST00000532059.5:c.773C>G	ENSP00000435712.1:p.Pro258Arg
ENST00000622443.2:c.767C>G	ENSP00000482268.1:p.Pro256Arg
NM_001308093.1:c.773C>G	NP_001295022.1:p.Pro258Arg
NM_001308094.1:c.152C>G	NP_001295023.1:p.Pro51Arg
NM_002052.3:c.770C>G	NP_002043.2:p.Pro257Arg
NM_002052.4:c.770C>G	NP_002043.2:p.Pro257Arg
XM_005272385.3:c.773C>G	XP_005272442.1:p.Pro258Arg
XM_005272386.1:c.773C>G	XP_005272443.1:p.Pro258Arg
XM_006716248.1:c.773C>G	XP_006716311.1:p.Pro258Arg
XM_011543817.1:c.773C>G	XP_011542119.1:p.Pro258Arg
XM_011543818.1:c.773C>G	XP_011542120.1:p.Pro258Arg
XM_005272385.4:c.773C>G	XP_005272442.1:p.Pro258Arg
XM_011543817.3:c.773C>G	XP_011542119.1:p.Pro258Arg
XM_011543818.2:c.773C>G	XP_011542120.1:p.Pro258Arg
XM_017013312.2:c.773C>G	XP_016868801.1:p.Pro258Arg
NM_001308093.3:c.773C>G MANE Select	NP_001295022.1:p.Pro258Arg
NM_001308094.2:c.152C>G	NP_001295023.1:p.Pro51Arg
NM_001374273.1:c.152C>G	NP_001361202.1:p.Pro51Arg
NM_001374274.1:c.152C>G	NP_001361203.1:p.Pro51Arg
NM_002052.5:c.770C>G	NP_002043.2:p.Pro257Arg