Canonical Allele Identifier: CA370315483

Gene: GATA4

Linked Data

• dbSNP Id: rs1802617707
• gnomAD v4: 8-11757068-C-G
• MyVariant Identifiers: chr8:g.11614577C>G (hg19) ; chr8:g.11757068C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11757068C>G , CM000670.2:g.11757068C>G	GRCh38
NC_000008.10:g.11614577C>G , CM000670.1:g.11614577C>G	GRCh37
NC_000008.9:g.11651986C>G	NCBI36
NG_008177.2:g.85150C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.1131C>G	ENSP00000482268.2:p.Ser377Arg
ENST00000532059.6:c.1134C>G MANE Select	ENSP00000435712.1:p.Ser378Arg
ENST00000335135.8:c.1131C>G	ENSP00000334458.4:p.Ser377Arg
ENST00000526021.1:n.576C>G
ENST00000526716.5:c.513C>G	ENSP00000435347.1:p.Ser171Arg
ENST00000528712.5:c.513C>G	ENSP00000435043.1:p.Ser171Arg
ENST00000532059.5:c.1134C>G	ENSP00000435712.1:p.Ser378Arg
ENST00000622443.2:c.1128C>G	ENSP00000482268.1:p.Ser376Arg
NM_001308093.1:c.1134C>G	NP_001295022.1:p.Ser378Arg
NM_001308094.1:c.513C>G	NP_001295023.1:p.Ser171Arg
NM_002052.3:c.1131C>G	NP_002043.2:p.Ser377Arg
NM_002052.4:c.1131C>G	NP_002043.2:p.Ser377Arg
XM_005272385.3:c.1134C>G	XP_005272442.1:p.Ser378Arg
XM_005272386.1:c.1134C>G	XP_005272443.1:p.Ser378Arg
XM_006716248.1:c.1134C>G	XP_006716311.1:p.Ser378Arg
XM_011543817.1:c.1134C>G	XP_011542119.1:p.Ser378Arg
XM_011543818.1:c.1134C>G	XP_011542120.1:p.Ser378Arg
XM_005272385.4:c.1134C>G	XP_005272442.1:p.Ser378Arg
XM_011543817.3:c.1134C>G	XP_011542119.1:p.Ser378Arg
XM_011543818.2:c.1134C>G	XP_011542120.1:p.Ser378Arg
XM_017013312.2:c.1134C>G	XP_016868801.1:p.Ser378Arg
NM_001308093.3:c.1134C>G MANE Select	NP_001295022.1:p.Ser378Arg
NM_001308094.2:c.513C>G	NP_001295023.1:p.Ser171Arg
NM_001374273.1:c.513C>G	NP_001361202.1:p.Ser171Arg
NM_001374274.1:c.387C>G	NP_001361203.1:p.Ser129Arg
NM_002052.5:c.1131C>G	NP_002043.2:p.Ser377Arg