Canonical Allele Identifier: CA370308887
Gene: GATA4 HGNC NCBI

Linked Data

gnomAD v4: 8-11708419-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.11708419C>T , CM000670.2:g.11708419C>T GRCh38
NC_000008.10:g.11565928C>T , CM000670.1:g.11565928C>T GRCh37
NC_000008.9:g.11603337C>T NCBI36
NG_008177.2:g.36501C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622443.3:c.107C>T ENSP00000482268.2:p.Pro36Leu
ENST00000532059.6:c.107C>T MANE Select ENSP00000435712.1:p.Pro36Leu
ENST00000335135.8:c.107C>T ENSP00000334458.4:p.Pro36Leu
ENST00000526716.5:c.-6+4115C>T ENSP00000435347.1:n.-6+4115C>T
ENST00000528027.1:c.107C>T ENSP00000432278.1:p.Pro36Leu
ENST00000528712.5:c.-6+7641C>T ENSP00000435043.1:n.-6+7641C>T
ENST00000532059.5:c.107C>T ENSP00000435712.1:p.Pro36Leu
ENST00000622443.2:c.106C>T ENSP00000482268.1:p.Gln36Ter
NM_001308093.1:c.107C>T NP_001295022.1:p.Pro36Leu
NM_001308094.1:c.-6+7641C>T NP_001295023.1:n.-6+7641C>T
NM_002052.3:c.107C>T NP_002043.2:p.Pro36Leu
NM_002052.4:c.107C>T NP_002043.2:p.Pro36Leu
XM_005272385.3:c.107C>T XP_005272442.1:p.Pro36Leu
XM_005272386.1:c.107C>T XP_005272443.1:p.Pro36Leu
XM_006716248.1:c.107C>T XP_006716311.1:p.Pro36Leu
XM_011543817.1:c.107C>T XP_011542119.1:p.Pro36Leu
XM_011543818.1:c.107C>T XP_011542120.1:p.Pro36Leu
XM_005272385.4:c.107C>T XP_005272442.1:p.Pro36Leu
XM_011543817.3:c.107C>T XP_011542119.1:p.Pro36Leu
XM_011543818.2:c.107C>T XP_011542120.1:p.Pro36Leu
XM_017013312.2:c.107C>T XP_016868801.1:p.Pro36Leu
NM_001308093.3:c.107C>T MANE Select NP_001295022.1:p.Pro36Leu
NM_001308094.2:c.-6+7641C>T NP_001295023.1:n.-6+7641C>T
NM_001374273.1:c.-3+4115C>T NP_001361202.1:n.-3+4115C>T
NM_001374274.1:c.-3+405C>T NP_001361203.1:n.-3+405C>T
NM_002052.5:c.107C>T NP_002043.2:p.Pro36Leu