Canonical Allele Identifier: CA370314879

Gene: GATA4

Linked Data

• gnomAD v4: 8-11756980-G-A
• MyVariant Identifiers: chr8:g.11614489G>A (hg19) ; chr8:g.11756980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11756980G>A , CM000670.2:g.11756980G>A	GRCh38
NC_000008.10:g.11614489G>A , CM000670.1:g.11614489G>A	GRCh37
NC_000008.9:g.11651898G>A	NCBI36
NG_008177.2:g.85062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.1043G>A	ENSP00000482268.2:p.Ser348Asn
ENST00000532059.6:c.1046G>A MANE Select	ENSP00000435712.1:p.Ser349Asn
ENST00000335135.8:c.1043G>A	ENSP00000334458.4:p.Ser348Asn
ENST00000526021.1:n.488G>A
ENST00000526716.5:c.425G>A	ENSP00000435347.1:p.Ser142Asn
ENST00000528712.5:c.425G>A	ENSP00000435043.1:p.Ser142Asn
ENST00000532059.5:c.1046G>A	ENSP00000435712.1:p.Ser349Asn
ENST00000622443.2:c.1040G>A	ENSP00000482268.1:p.Ser347Asn
NM_001308093.1:c.1046G>A	NP_001295022.1:p.Ser349Asn
NM_001308094.1:c.425G>A	NP_001295023.1:p.Ser142Asn
NM_002052.3:c.1043G>A	NP_002043.2:p.Ser348Asn
NM_002052.4:c.1043G>A	NP_002043.2:p.Ser348Asn
XM_005272385.3:c.1046G>A	XP_005272442.1:p.Ser349Asn
XM_005272386.1:c.1046G>A	XP_005272443.1:p.Ser349Asn
XM_006716248.1:c.1046G>A	XP_006716311.1:p.Ser349Asn
XM_011543817.1:c.1046G>A	XP_011542119.1:p.Ser349Asn
XM_011543818.1:c.1046G>A	XP_011542120.1:p.Ser349Asn
XM_005272385.4:c.1046G>A	XP_005272442.1:p.Ser349Asn
XM_011543817.3:c.1046G>A	XP_011542119.1:p.Ser349Asn
XM_011543818.2:c.1046G>A	XP_011542120.1:p.Ser349Asn
XM_017013312.2:c.1046G>A	XP_016868801.1:p.Ser349Asn
NM_001308093.3:c.1046G>A MANE Select	NP_001295022.1:p.Ser349Asn
NM_001308094.2:c.425G>A	NP_001295023.1:p.Ser142Asn
NM_001374273.1:c.425G>A	NP_001361202.1:p.Ser142Asn
NM_001374274.1:c.299G>A	NP_001361203.1:p.Ser100Asn
NM_002052.5:c.1043G>A	NP_002043.2:p.Ser348Asn