Canonical Allele Identifier: CA370313035
Gene: GATA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1458733
ClinVar RCV Id: RCV001949586
dbSNP Id: rs2130313276

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11750178G>A , CM000670.2:g.11750178G>A GRCh38
NC_000008.10:g.11607687G>A , CM000670.1:g.11607687G>A GRCh37
NC_000008.9:g.11645096G>A NCBI36
NG_008177.2:g.78260G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000622443.3:c.851G>A ENSP00000482268.2:p.Arg284His
ENST00000532059.6:c.854G>A MANE Select ENSP00000435712.1:p.Arg285His
ENST00000335135.8:c.851G>A ENSP00000334458.4:p.Arg284His
ENST00000526716.5:c.233G>A ENSP00000435347.1:p.Arg78His
ENST00000528712.5:c.233G>A ENSP00000435043.1:p.Arg78His
ENST00000532059.5:c.854G>A ENSP00000435712.1:p.Arg285His
ENST00000622443.2:c.848G>A ENSP00000482268.1:p.Arg283His
NM_001308093.1:c.854G>A NP_001295022.1:p.Arg285His
NM_001308094.1:c.233G>A NP_001295023.1:p.Arg78His
NM_002052.3:c.851G>A NP_002043.2:p.Arg284His
NM_002052.4:c.851G>A NP_002043.2:p.Arg284His
XM_005272385.3:c.854G>A XP_005272442.1:p.Arg285His
XM_005272386.1:c.854G>A XP_005272443.1:p.Arg285His
XM_006716248.1:c.854G>A XP_006716311.1:p.Arg285His
XM_011543817.1:c.854G>A XP_011542119.1:p.Arg285His
XM_011543818.1:c.854G>A XP_011542120.1:p.Arg285His
XM_005272385.4:c.854G>A XP_005272442.1:p.Arg285His
XM_011543817.3:c.854G>A XP_011542119.1:p.Arg285His
XM_011543818.2:c.854G>A XP_011542120.1:p.Arg285His
XM_017013312.2:c.854G>A XP_016868801.1:p.Arg285His
NM_001308093.3:c.854G>A MANE Select NP_001295022.1:p.Arg285His
NM_001308094.2:c.233G>A NP_001295023.1:p.Arg78His
NM_001374273.1:c.233G>A NP_001361202.1:p.Arg78His
NM_001374274.1:c.165+1093G>A NP_001361203.1:n.165+1093G>A
NM_002052.5:c.851G>A NP_002043.2:p.Arg284His