Canonical Allele Identifier: CA579789161

Gene: GATA4

Linked Data

• ClinVar Variation Id: 2167830
• ClinVar RCV Id: RCV003100196
• dbSNP Id: rs1216514150
• gnomAD v2: 8-11614484-TTCCAGCAAC-T
• gnomAD v3: 8-11756975-TTCCAGCAAC-T
• gnomAD v4: 8-11756975-TTCCAGCAAC-T
• MyVariant Identifiers: chr8:g.11614485_11614493del (hg19) ; chr8:g.11756976_11756984del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11756985_11756993del , CM000670.2:g.11756985_11756993del	GRCh38
NC_000008.10:g.11614494_11614502del , CM000670.1:g.11614494_11614502del	GRCh37
NC_000008.9:g.11651903_11651911del	NCBI36
NG_008177.2:g.85067_85075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.1048_1056del	ENSP00000482268.2:p.Ser350_Asn352del
ENST00000532059.6:c.1051_1059del MANE Select	ENSP00000435712.1:p.Ser351_Asn353del
ENST00000335135.8:c.1048_1056del	ENSP00000334458.4:p.Ser350_Asn352del
ENST00000526021.1:n.493_501del
ENST00000526716.5:c.430_438del	ENSP00000435347.1:p.Ser144_Asn146del
ENST00000528712.5:c.430_438del	ENSP00000435043.1:p.Ser144_Asn146del
ENST00000532059.5:c.1051_1059del	ENSP00000435712.1:p.Ser351_Asn353del
ENST00000622443.2:c.1045_1053del	ENSP00000482268.1:p.Ser349_Asn351del
NM_001308093.1:c.1051_1059del	NP_001295022.1:p.Ser351_Asn353del
NM_001308094.1:c.430_438del	NP_001295023.1:p.Ser144_Asn146del
NM_002052.3:c.1048_1056del	NP_002043.2:p.Ser350_Asn352del
NM_002052.4:c.1048_1056del	NP_002043.2:p.Ser350_Asn352del
XM_005272385.3:c.1051_1059del	XP_005272442.1:p.Ser351_Asn353del
XM_005272386.1:c.1051_1059del	XP_005272443.1:p.Ser351_Asn353del
XM_006716248.1:c.1051_1059del	XP_006716311.1:p.Ser351_Asn353del
XM_011543817.1:c.1051_1059del	XP_011542119.1:p.Ser351_Asn353del
XM_011543818.1:c.1051_1059del	XP_011542120.1:p.Ser351_Asn353del
XM_005272385.4:c.1051_1059del	XP_005272442.1:p.Ser351_Asn353del
XM_011543817.3:c.1051_1059del	XP_011542119.1:p.Ser351_Asn353del
XM_011543818.2:c.1051_1059del	XP_011542120.1:p.Ser351_Asn353del
XM_017013312.2:c.1051_1059del	XP_016868801.1:p.Ser351_Asn353del
NM_001308093.3:c.1051_1059del MANE Select	NP_001295022.1:p.Ser351_Asn353del
NM_001308094.2:c.430_438del	NP_001295023.1:p.Ser144_Asn146del
NM_001374273.1:c.430_438del	NP_001361202.1:p.Ser144_Asn146del
NM_001374274.1:c.304_312del	NP_001361203.1:p.Ser102_Asn104del
NM_002052.5:c.1048_1056del	NP_002043.2:p.Ser350_Asn352del