Canonical Allele Identifier: CA370309578

Gene: GATA4

Linked Data

• ClinVar Variation Id: 2884178
• ClinVar RCV Id: RCV003642465
• dbSNP Id: rs1368990933
• gnomAD v3: 8-11708728-C-T
• gnomAD v4: 8-11708728-C-T
• MyVariant Identifiers: chr8:g.11566237C>T (hg19) ; chr8:g.11708728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11708728C>T , CM000670.2:g.11708728C>T	GRCh38
NC_000008.10:g.11566237C>T , CM000670.1:g.11566237C>T	GRCh37
NC_000008.9:g.11603646C>T	NCBI36
NG_008177.2:g.36810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622443.3:c.416C>T	ENSP00000482268.2:p.Ala139Val
ENST00000532059.6:c.416C>T MANE Select	ENSP00000435712.1:p.Ala139Val
ENST00000335135.8:c.416C>T	ENSP00000334458.4:p.Ala139Val
ENST00000526716.5:c.-6+4424C>T	ENSP00000435347.1:n.-6+4424C>T
ENST00000528712.5:c.-6+7950C>T	ENSP00000435043.1:n.-6+7950C>T
ENST00000532059.5:c.416C>T	ENSP00000435712.1:p.Ala139Val
ENST00000622443.2:c.413C>T	ENSP00000482268.1:p.Ala138Val
NM_001308093.1:c.416C>T	NP_001295022.1:p.Ala139Val
NM_001308094.1:c.-6+7950C>T	NP_001295023.1:n.-6+7950C>T
NM_002052.3:c.416C>T	NP_002043.2:p.Ala139Val
NM_002052.4:c.416C>T	NP_002043.2:p.Ala139Val
XM_005272385.3:c.416C>T	XP_005272442.1:p.Ala139Val
XM_005272386.1:c.416C>T	XP_005272443.1:p.Ala139Val
XM_006716248.1:c.416C>T	XP_006716311.1:p.Ala139Val
XM_011543817.1:c.416C>T	XP_011542119.1:p.Ala139Val
XM_011543818.1:c.416C>T	XP_011542120.1:p.Ala139Val
XM_005272385.4:c.416C>T	XP_005272442.1:p.Ala139Val
XM_011543817.3:c.416C>T	XP_011542119.1:p.Ala139Val
XM_011543818.2:c.416C>T	XP_011542120.1:p.Ala139Val
XM_017013312.2:c.416C>T	XP_016868801.1:p.Ala139Val
NM_001308093.3:c.416C>T MANE Select	NP_001295022.1:p.Ala139Val
NM_001308094.2:c.-6+7950C>T	NP_001295023.1:n.-6+7950C>T
NM_001374273.1:c.-3+4424C>T	NP_001361202.1:n.-3+4424C>T
NM_001374274.1:c.-3+714C>T	NP_001361203.1:n.-3+714C>T
NM_002052.5:c.416C>T	NP_002043.2:p.Ala139Val