Canonical Allele Identifier: CA212675
Gene: GATA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 30108
dbSNP Id: rs387906771

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11750166C>T , CM000670.2:g.11750166C>T GRCh38
NC_000008.10:g.11607675C>T , CM000670.1:g.11607675C>T GRCh37
NC_000008.9:g.11645084C>T NCBI36
NG_008177.2:g.78248C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000532059.6:c.842C>T MANE Select ENSP00000435712.1:p.Thr281Met
ENST00000335135.8:c.839C>T ENSP00000334458.4:p.Thr280Met
ENST00000526716.5:c.221C>T ENSP00000435347.1:p.Thr74Met
ENST00000528712.5:c.221C>T ENSP00000435043.1:p.Thr74Met
ENST00000532059.5:c.842C>T ENSP00000435712.1:p.Thr281Met
ENST00000622443.2:n.836C>T ENSP00000482268.1:p.Thr279Met
NM_001308093.1:c.842C>T NP_001295022.1:p.Thr281Met
NM_001308094.1:c.221C>T NP_001295023.1:p.Thr74Met
NM_002052.3:c.839C>T NP_002043.2:p.Thr280Met
NM_002052.4:c.839C>T NP_002043.2:p.Thr280Met
XM_005272385.3:c.842C>T XP_005272442.1:p.Thr281Met
XM_005272386.1:c.842C>T XP_005272443.1:p.Thr281Met
XM_006716248.1:c.842C>T XP_006716311.1:p.Thr281Met
XM_011543817.1:c.842C>T XP_011542119.1:p.Thr281Met
XM_011543818.1:c.842C>T XP_011542120.1:p.Thr281Met
XM_005272385.4:c.842C>T XP_005272442.1:p.Thr281Met
XM_011543817.3:c.842C>T XP_011542119.1:p.Thr281Met
XM_011543818.2:c.842C>T XP_011542120.1:p.Thr281Met
XM_017013312.2:c.842C>T XP_016868801.1:p.Thr281Met
NM_001308093.3:c.842C>T MANE Select NP_001295022.1:p.Thr281Met
NM_001308094.2:c.221C>T NP_001295023.1:p.Thr74Met
NM_001374273.1:c.221C>T NP_001361202.1:p.Thr74Met
NM_001374274.1:c.165+1081C>T NP_001361203.1:p.=
NM_002052.5:c.839C>T NP_002043.2:p.Thr280Met