Canonical Allele Identifier: CA13142246
Gene: GATA3 HGNC NCBI
COSMIC:
COSN17993031 (not active)
MyVariant.info:
GRCh38 chr10:g.8059964T>C
GRCh37 chr10:g.8101927T>C
gnomAD v2:
10:8101927 T / C
gnomAD v3:
10:8059964 T / C
gnomAD v4:
chr10-8059964-T-C
Joint Max Group AF 0.29223963 (EAS)
Genomes Max Group AF 0.29223963 (EAS)
ClinVar Allele:
4009539
ClinVar RCV:
RCV005402711
ClinVar Variation:
3893658
dbSNP:
3781093
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8059964T>C , CM000672.2:g.8059964T>C GRCh38
NC_000010.10:g.8101927T>C , CM000672.1:g.8101927T>C GRCh37
NC_000010.9:g.8141933T>C NCBI36
NG_015859.1:g.10261T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.778+1123T>C ENSP00000341619.3:n.778+1123T>C
ENST00000379328.9:c.778+1123T>C MANE Select ENSP00000368632.3:n.778+1123T>C
ENST00000346208.3:c.778+1123T>C ENSP00000341619.3:n.778+1123T>C
ENST00000379328.7:c.778+1123T>C ENSP00000368632.3:n.778+1123T>C
ENST00000461472.1:n.443+1123T>C
NM_001002295.1:c.778+1123T>C NP_001002295.1:n.778+1123T>C
NM_002051.2:c.778+1123T>C NP_002042.1:n.778+1123T>C
XM_005252442.2:c.778+1123T>C XP_005252499.1:n.778+1123T>C
XM_005252443.3:c.778+1123T>C XP_005252500.1:n.778+1123T>C
XM_005252443.5:c.778+1123T>C XP_005252500.1:n.778+1123T>C
NM_001002295.2:c.778+1123T>C MANE Select NP_001002295.1:n.778+1123T>C
NM_002051.3:c.778+1123T>C NP_002042.1:n.778+1123T>C
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