Canonical Allele Identifier: CA172069882
Gene: GATA4 HGNC NCBI

Linked Data

dbSNP Id: rs1057469022
gnomAD v2: 8-11560939-C-A
gnomAD v3: 8-11703430-C-A
gnomAD v4: 8-11703430-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11703430C>A , CM000670.2:g.11703430C>A GRCh38
NC_000008.10:g.11560939C>A , CM000670.1:g.11560939C>A GRCh37
NC_000008.9:g.11598348C>A NCBI36
NG_008177.2:g.31512C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000526974.1:c.-458+2652C>A ENSP00000473598.1:n.-458+2652C>A
ENST00000528712.5:c.-6+2652C>A ENSP00000435043.1:n.-6+2652C>A
ENST00000532977.1:c.-458+2652C>A ENSP00000473671.1:n.-458+2652C>A
NM_001308094.1:c.-6+2652C>A NP_001295023.1:n.-6+2652C>A
XM_005272386.1:c.-458+2652C>A XP_005272443.1:n.-458+2652C>A
XM_006716248.1:c.-458+2652C>A XP_006716311.1:n.-458+2652C>A
XM_011543817.1:c.-458+2652C>A XP_011542119.1:n.-458+2652C>A
XM_011543818.1:c.-458+2973C>A XP_011542120.1:n.-458+2973C>A
XM_011543817.3:c.-458+2652C>A XP_011542119.1:n.-458+2652C>A
XM_011543818.2:c.-458+2973C>A XP_011542120.1:n.-458+2973C>A
NM_001308094.2:c.-6+2652C>A NP_001295023.1:n.-6+2652C>A