Canonical Allele Identifier: CA4630827

Gene: GATA4

Linked Data

• ClinVar Variation Id: 404062
• ClinVar RCV Id: RCV000464841
• dbSNP Id: rs781198110
• ExAC: 8:11614543 C / T
• gnomAD v2: 8-11614543-C-T
• gnomAD v3: 8-11757034-C-T
• gnomAD v4: 8-11757034-C-T
• COSMIC: COSM1454376
• MyVariant Identifiers: chr8:g.11614543C>T (hg19) ; chr8:g.11757034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11757034C>T , CM000670.2:g.11757034C>T	GRCh38
NC_000008.10:g.11614543C>T , CM000670.1:g.11614543C>T	GRCh37
NC_000008.9:g.11651952C>T	NCBI36
NG_008177.2:g.85116C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.1097C>T	ENSP00000482268.2:p.Thr366Met
ENST00000532059.6:c.1100C>T MANE Select	ENSP00000435712.1:p.Thr367Met
ENST00000335135.8:c.1097C>T	ENSP00000334458.4:p.Thr366Met
ENST00000526021.1:n.542C>T
ENST00000526716.5:c.479C>T	ENSP00000435347.1:p.Thr160Met
ENST00000528712.5:c.479C>T	ENSP00000435043.1:p.Thr160Met
ENST00000532059.5:c.1100C>T	ENSP00000435712.1:p.Thr367Met
ENST00000622443.2:c.1094C>T	ENSP00000482268.1:p.Thr365Met
NM_001308093.1:c.1100C>T	NP_001295022.1:p.Thr367Met
NM_001308094.1:c.479C>T	NP_001295023.1:p.Thr160Met
NM_002052.3:c.1097C>T	NP_002043.2:p.Thr366Met
NM_002052.4:c.1097C>T	NP_002043.2:p.Thr366Met
XM_005272385.3:c.1100C>T	XP_005272442.1:p.Thr367Met
XM_005272386.1:c.1100C>T	XP_005272443.1:p.Thr367Met
XM_006716248.1:c.1100C>T	XP_006716311.1:p.Thr367Met
XM_011543817.1:c.1100C>T	XP_011542119.1:p.Thr367Met
XM_011543818.1:c.1100C>T	XP_011542120.1:p.Thr367Met
XM_005272385.4:c.1100C>T	XP_005272442.1:p.Thr367Met
XM_011543817.3:c.1100C>T	XP_011542119.1:p.Thr367Met
XM_011543818.2:c.1100C>T	XP_011542120.1:p.Thr367Met
XM_017013312.2:c.1100C>T	XP_016868801.1:p.Thr367Met
NM_001308093.3:c.1100C>T MANE Select	NP_001295022.1:p.Thr367Met
NM_001308094.2:c.479C>T	NP_001295023.1:p.Thr160Met
NM_001374273.1:c.479C>T	NP_001361202.1:p.Thr160Met
NM_001374274.1:c.353C>T	NP_001361203.1:p.Thr118Met
NM_002052.5:c.1097C>T	NP_002043.2:p.Thr366Met