Canonical Allele Identifier: CA370313037
Gene: GATA4 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000622443.3:c.851G>T ENSP00000482268.2:p.Arg284Leu
ENST00000532059.6:c.854G>T MANE Select ENSP00000435712.1:p.Arg285Leu
ENST00000335135.8:c.851G>T ENSP00000334458.4:p.Arg284Leu
ENST00000526716.5:c.233G>T ENSP00000435347.1:p.Arg78Leu
ENST00000528712.5:c.233G>T ENSP00000435043.1:p.Arg78Leu
ENST00000532059.5:c.854G>T ENSP00000435712.1:p.Arg285Leu
ENST00000622443.2:c.848G>T ENSP00000482268.1:p.Arg283Leu
NM_001308093.1:c.854G>T NP_001295022.1:p.Arg285Leu
NM_001308094.1:c.233G>T NP_001295023.1:p.Arg78Leu
NM_002052.3:c.851G>T NP_002043.2:p.Arg284Leu
NM_002052.4:c.851G>T NP_002043.2:p.Arg284Leu
XM_005272385.3:c.854G>T XP_005272442.1:p.Arg285Leu
XM_005272386.1:c.854G>T XP_005272443.1:p.Arg285Leu
XM_006716248.1:c.854G>T XP_006716311.1:p.Arg285Leu
XM_011543817.1:c.854G>T XP_011542119.1:p.Arg285Leu
XM_011543818.1:c.854G>T XP_011542120.1:p.Arg285Leu
XM_005272385.4:c.854G>T XP_005272442.1:p.Arg285Leu
XM_011543817.3:c.854G>T XP_011542119.1:p.Arg285Leu
XM_011543818.2:c.854G>T XP_011542120.1:p.Arg285Leu
XM_017013312.2:c.854G>T XP_016868801.1:p.Arg285Leu
NM_001308093.3:c.854G>T MANE Select NP_001295022.1:p.Arg285Leu
NM_001308094.2:c.233G>T NP_001295023.1:p.Arg78Leu
NM_001374273.1:c.233G>T NP_001361202.1:p.Arg78Leu
NM_001374274.1:c.165+1093G>T NP_001361203.1:n.165+1093G>T
NM_002052.5:c.851G>T NP_002043.2:p.Arg284Leu