Canonical Allele Identifier: CA370308683
Gene: GATA4 HGNC NCBI

Linked Data

dbSNP Id: rs551378949
gnomAD v2: 8-11565881-G-A
gnomAD v3: 8-11708372-G-A
gnomAD v4: 8-11708372-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11708372G>A , CM000670.2:g.11708372G>A GRCh38
NC_000008.10:g.11565881G>A , CM000670.1:g.11565881G>A GRCh37
NC_000008.9:g.11603290G>A NCBI36
NG_008177.2:g.36454G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622443.3:c.60G>A ENSP00000482268.2:p.Ala20=
ENST00000532059.6:c.60G>A MANE Select ENSP00000435712.1:p.Ala20=
ENST00000335135.8:c.60G>A ENSP00000334458.4:p.Ala20=
ENST00000526716.5:c.-6+4068G>A ENSP00000435347.1:n.-6+4068G>A
ENST00000526974.1:c.60G>A ENSP00000473598.1:p.Ala20=
ENST00000528027.1:c.60G>A ENSP00000432278.1:p.Ala20=
ENST00000528712.5:c.-6+7594G>A ENSP00000435043.1:n.-6+7594G>A
ENST00000532059.5:c.60G>A ENSP00000435712.1:p.Ala20=
ENST00000622443.2:c.59G>A ENSP00000482268.1:p.Arg20Gln
NM_001308093.1:c.60G>A NP_001295022.1:p.Ala20=
NM_001308094.1:c.-6+7594G>A NP_001295023.1:n.-6+7594G>A
NM_002052.3:c.60G>A NP_002043.2:p.Ala20=
NM_002052.4:c.60G>A NP_002043.2:p.Ala20=
XM_005272385.3:c.60G>A XP_005272442.1:p.Ala20=
XM_005272386.1:c.60G>A XP_005272443.1:p.Ala20=
XM_006716248.1:c.60G>A XP_006716311.1:p.Ala20=
XM_011543817.1:c.60G>A XP_011542119.1:p.Ala20=
XM_011543818.1:c.60G>A XP_011542120.1:p.Ala20=
XM_005272385.4:c.60G>A XP_005272442.1:p.Ala20=
XM_011543817.3:c.60G>A XP_011542119.1:p.Ala20=
XM_011543818.2:c.60G>A XP_011542120.1:p.Ala20=
XM_017013312.2:c.60G>A XP_016868801.1:p.Ala20=
NM_001308093.3:c.60G>A MANE Select NP_001295022.1:p.Ala20=
NM_001308094.2:c.-6+7594G>A NP_001295023.1:n.-6+7594G>A
NM_001374273.1:c.-3+4068G>A NP_001361202.1:n.-3+4068G>A
NM_001374274.1:c.-3+358G>A NP_001361203.1:n.-3+358G>A
NM_002052.5:c.60G>A NP_002043.2:p.Ala20=