Canonical Allele Identifier: CA172069827
Gene: GATA4 HGNC NCBI

Linked Data

dbSNP Id: rs533740512
gnomAD v2: 8-11560898-C-G
gnomAD v3: 8-11703389-C-G
gnomAD v4: 8-11703389-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11703389C>G , CM000670.2:g.11703389C>G GRCh38
NC_000008.10:g.11560898C>G , CM000670.1:g.11560898C>G GRCh37
NC_000008.9:g.11598307C>G NCBI36
NG_008177.2:g.31471C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000526974.1:c.-458+2611C>G ENSP00000473598.1:n.-458+2611C>G
ENST00000528712.5:c.-6+2611C>G ENSP00000435043.1:n.-6+2611C>G
ENST00000532977.1:c.-458+2611C>G ENSP00000473671.1:n.-458+2611C>G
NM_001308094.1:c.-6+2611C>G NP_001295023.1:n.-6+2611C>G
XM_005272386.1:c.-458+2611C>G XP_005272443.1:n.-458+2611C>G
XM_006716248.1:c.-458+2611C>G XP_006716311.1:n.-458+2611C>G
XM_011543817.1:c.-458+2611C>G XP_011542119.1:n.-458+2611C>G
XM_011543818.1:c.-458+2932C>G XP_011542120.1:n.-458+2932C>G
XM_011543817.3:c.-458+2611C>G XP_011542119.1:n.-458+2611C>G
XM_011543818.2:c.-458+2932C>G XP_011542120.1:n.-458+2932C>G
NM_001308094.2:c.-6+2611C>G NP_001295023.1:n.-6+2611C>G