Canonical Allele Identifier: CA579789446
Gene: GATA4 HGNC NCBI

Linked Data

dbSNP Id: rs1387617375
gnomAD v2: 8-11616098-A-G
gnomAD v3: 8-11758589-A-G
gnomAD v4: 8-11758589-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11758589A>G , CM000670.2:g.11758589A>G GRCh38
NC_000008.10:g.11616098A>G , CM000670.1:g.11616098A>G GRCh37
NC_000008.9:g.11653507A>G NCBI36
NG_008177.2:g.86671A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622443.3:c.*114A>G ENSP00000482268.2:n.*114A>G
ENST00000532059.6:c.*114A>G MANE Select ENSP00000435712.1:n.*114A>G
ENST00000335135.8:c.*114A>G ENSP00000334458.4:n.*114A>G
ENST00000526021.1:n.888A>G
ENST00000528712.5:c.*114A>G ENSP00000435043.1:n.*114A>G
ENST00000622443.2:c.1440A>G ENSP00000482268.1:n.1440A>G
NM_001308093.1:c.*114A>G NP_001295022.1:n.*114A>G
NM_001308094.1:c.*114A>G NP_001295023.1:n.*114A>G
NM_002052.3:c.*114A>G NP_002043.2:n.*114A>G
NM_002052.4:c.*114A>G NP_002043.2:n.*114A>G
XM_005272385.3:c.*114A>G XP_005272442.1:n.*114A>G
XM_005272386.1:c.*114A>G XP_005272443.1:n.*114A>G
XM_006716248.1:c.*114A>G XP_006716311.1:n.*114A>G
XM_011543817.1:c.*114A>G XP_011542119.1:n.*114A>G
XM_011543818.1:c.*114A>G XP_011542120.1:n.*114A>G
XM_005272385.4:c.*114A>G XP_005272442.1:n.*114A>G
XM_011543817.3:c.*114A>G XP_011542119.1:n.*114A>G
XM_011543818.2:c.*114A>G XP_011542120.1:n.*114A>G
XM_017013312.2:c.*114A>G XP_016868801.1:n.*114A>G
NM_001308093.3:c.*114A>G MANE Select NP_001295022.1:n.*114A>G
NM_001308094.2:c.*114A>G NP_001295023.1:n.*114A>G
NM_001374273.1:c.*114A>G NP_001361202.1:n.*114A>G
NM_001374274.1:c.*114A>G NP_001361203.1:n.*114A>G
NM_002052.5:c.*114A>G NP_002043.2:n.*114A>G