Canonical Allele Identifier: CA370309312
Gene: GATA4 HGNC NCBI

Linked Data

gnomAD v4: 8-11708597-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11708597C>G , CM000670.2:g.11708597C>G GRCh38
NC_000008.10:g.11566106C>G , CM000670.1:g.11566106C>G GRCh37
NC_000008.9:g.11603515C>G NCBI36
NG_008177.2:g.36679C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622443.3:c.285C>G ENSP00000482268.2:p.Asp95Glu
ENST00000532059.6:c.285C>G MANE Select ENSP00000435712.1:p.Asp95Glu
ENST00000335135.8:c.285C>G ENSP00000334458.4:p.Asp95Glu
ENST00000526716.5:c.-6+4293C>G ENSP00000435347.1:n.-6+4293C>G
ENST00000528027.1:c.285C>G ENSP00000432278.1:p.Asp95Glu
ENST00000528712.5:c.-6+7819C>G ENSP00000435043.1:n.-6+7819C>G
ENST00000532059.5:c.285C>G ENSP00000435712.1:p.Asp95Glu
ENST00000622443.2:c.282C>G ENSP00000482268.1:p.Asp94Glu
NM_001308093.1:c.285C>G NP_001295022.1:p.Asp95Glu
NM_001308094.1:c.-6+7819C>G NP_001295023.1:n.-6+7819C>G
NM_002052.3:c.285C>G NP_002043.2:p.Asp95Glu
NM_002052.4:c.285C>G NP_002043.2:p.Asp95Glu
XM_005272385.3:c.285C>G XP_005272442.1:p.Asp95Glu
XM_005272386.1:c.285C>G XP_005272443.1:p.Asp95Glu
XM_006716248.1:c.285C>G XP_006716311.1:p.Asp95Glu
XM_011543817.1:c.285C>G XP_011542119.1:p.Asp95Glu
XM_011543818.1:c.285C>G XP_011542120.1:p.Asp95Glu
XM_005272385.4:c.285C>G XP_005272442.1:p.Asp95Glu
XM_011543817.3:c.285C>G XP_011542119.1:p.Asp95Glu
XM_011543818.2:c.285C>G XP_011542120.1:p.Asp95Glu
XM_017013312.2:c.285C>G XP_016868801.1:p.Asp95Glu
NM_001308093.3:c.285C>G MANE Select NP_001295022.1:p.Asp95Glu
NM_001308094.2:c.-6+7819C>G NP_001295023.1:n.-6+7819C>G
NM_001374273.1:c.-3+4293C>G NP_001361202.1:n.-3+4293C>G
NM_001374274.1:c.-3+583C>G NP_001361203.1:n.-3+583C>G
NM_002052.5:c.285C>G NP_002043.2:p.Asp95Glu