Canonical Allele Identifier: CA579774691
Gene: GATA4 HGNC NCBI

Linked Data

dbSNP Id: rs1466253631
gnomAD v2: 8-11560985-G-A
gnomAD v3: 8-11703476-G-A
gnomAD v4: 8-11703476-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11703476G>A , CM000670.2:g.11703476G>A GRCh38
NC_000008.10:g.11560985G>A , CM000670.1:g.11560985G>A GRCh37
NC_000008.9:g.11598394G>A NCBI36
NG_008177.2:g.31558G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000526974.1:c.-458+2698G>A ENSP00000473598.1:n.-458+2698G>A
ENST00000528712.5:c.-6+2698G>A ENSP00000435043.1:n.-6+2698G>A
ENST00000532977.1:c.-458+2698G>A ENSP00000473671.1:n.-458+2698G>A
NM_001308094.1:c.-6+2698G>A NP_001295023.1:n.-6+2698G>A
XM_005272386.1:c.-458+2698G>A XP_005272443.1:n.-458+2698G>A
XM_006716248.1:c.-458+2698G>A XP_006716311.1:n.-458+2698G>A
XM_011543817.1:c.-458+2698G>A XP_011542119.1:n.-458+2698G>A
XM_011543818.1:c.-458+3019G>A XP_011542120.1:n.-458+3019G>A
XM_011543817.3:c.-458+2698G>A XP_011542119.1:n.-458+2698G>A
XM_011543818.2:c.-458+3019G>A XP_011542120.1:n.-458+3019G>A
XM_017013312.2:c.-1286G>A XP_016868801.1:n.-1286G>A
NM_001308094.2:c.-6+2698G>A NP_001295023.1:n.-6+2698G>A