Canonical Allele Identifier: CA4630813
Community Standard Title: NM_001308093.3(GATA4):c.1067C>G (p.Thr356Ser)
Gene: GATA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11757001C>G , CM000670.2:g.11757001C>G GRCh38
NC_000008.10:g.11614510C>G , CM000670.1:g.11614510C>G GRCh37
NC_000008.9:g.11651919C>G NCBI36
NG_008177.2:g.85083C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001308093.3:c.1067C>G MANE Select NP_001295022.1:p.Thr356Ser
ENST00000532059.6:c.1067C>G MANE Select ENSP00000435712.1:p.Thr356Ser
NM_001308093.1:c.1067C>G NP_001295022.1:p.Thr356Ser
NM_001308094.1:c.446C>G NP_001295023.1:p.Thr149Ser
NM_001308094.2:c.446C>G NP_001295023.1:p.Thr149Ser
NM_001374273.1:c.446C>G NP_001361202.1:p.Thr149Ser
NM_001374274.1:c.320C>G NP_001361203.1:p.Thr107Ser
NM_002052.3:c.1064C>G NP_002043.2:p.Thr355Ser
NM_002052.4:c.1064C>G NP_002043.2:p.Thr355Ser
NM_002052.5:c.1064C>G NP_002043.2:p.Thr355Ser
ENST00000335135.8:c.1064C>G ENSP00000334458.4:p.Thr355Ser
ENST00000526021.1:n.509C>G
ENST00000526716.5:c.446C>G ENSP00000435347.1:p.Thr149Ser
ENST00000528712.5:c.446C>G ENSP00000435043.1:p.Thr149Ser
ENST00000532059.5:c.1067C>G ENSP00000435712.1:p.Thr356Ser
ENST00000622443.2:c.1061C>G ENSP00000482268.1:p.Thr354Ser
ENST00000622443.3:c.1064C>G ENSP00000482268.2:p.Thr355Ser
XM_005272385.3:c.1067C>G XP_005272442.1:p.Thr356Ser
XM_005272385.4:c.1067C>G XP_005272442.1:p.Thr356Ser
XM_005272386.1:c.1067C>G XP_005272443.1:p.Thr356Ser
XM_006716248.1:c.1067C>G XP_006716311.1:p.Thr356Ser
XM_011543817.1:c.1067C>G XP_011542119.1:p.Thr356Ser
XM_011543817.3:c.1067C>G XP_011542119.1:p.Thr356Ser
XM_011543818.1:c.1067C>G XP_011542120.1:p.Thr356Ser
XM_011543818.2:c.1067C>G XP_011542120.1:p.Thr356Ser
XM_017013312.2:c.1067C>G XP_016868801.1:p.Thr356Ser