Canonical Allele Identifier: CA172069731
Gene: GATA4 HGNC NCBI

Linked Data

dbSNP Id: rs539149059
gnomAD v2: 8-11560790-G-T
gnomAD v3: 8-11703281-G-T
gnomAD v4: 8-11703281-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11703281G>T , CM000670.2:g.11703281G>T GRCh38
NC_000008.10:g.11560790G>T , CM000670.1:g.11560790G>T GRCh37
NC_000008.9:g.11598199G>T NCBI36
NG_008177.2:g.31363G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000526974.1:c.-458+2503G>T ENSP00000473598.1:n.-458+2503G>T
ENST00000528712.5:c.-6+2503G>T ENSP00000435043.1:n.-6+2503G>T
ENST00000532977.1:c.-458+2503G>T ENSP00000473671.1:n.-458+2503G>T
NM_001308094.1:c.-6+2503G>T NP_001295023.1:n.-6+2503G>T
XM_005272386.1:c.-458+2503G>T XP_005272443.1:n.-458+2503G>T
XM_006716248.1:c.-458+2503G>T XP_006716311.1:n.-458+2503G>T
XM_011543817.1:c.-458+2503G>T XP_011542119.1:n.-458+2503G>T
XM_011543818.1:c.-458+2824G>T XP_011542120.1:n.-458+2824G>T
XM_011543817.3:c.-458+2503G>T XP_011542119.1:n.-458+2503G>T
XM_011543818.2:c.-458+2824G>T XP_011542120.1:n.-458+2824G>T
NM_001308094.2:c.-6+2503G>T NP_001295023.1:n.-6+2503G>T