Canonical Allele Identifier: CA5404507
Gene: GATA3 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.8069446C>T
GRCh37 chr10:g.8111409C>T
gnomAD v2:
10:8111409 C / T
gnomAD v3:
10:8069446 C / T
gnomAD v4:
chr10-8069446-C-T
Joint Max Group AF 0.94956758 (EAS)
Genomes Max Group AF 0.9340281 (EAS)
Exomes Max Group AF 0.94919751 (EAS)
ClinVar RCV:
RCV001620491
RCV001702938
ClinVar Variation:
1234255
dbSNP:
422628
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.8069446C>T , CM000672.2:g.8069446C>T GRCh38
NC_000010.10:g.8111409C>T , CM000672.1:g.8111409C>T GRCh37
NC_000010.9:g.8151415C>T NCBI36
NG_015859.1:g.19743C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000346208.4:c.922-27C>T ENSP00000341619.3:n.922-27C>T
ENST00000379328.9:c.925-27C>T MANE Select ENSP00000368632.3:n.925-27C>T
ENST00000346208.3:c.922-27C>T ENSP00000341619.3:n.922-27C>T
ENST00000379328.7:c.925-27C>T ENSP00000368632.3:n.925-27C>T
ENST00000461472.1:n.444-27C>T
NM_001002295.1:c.925-27C>T NP_001002295.1:n.925-27C>T
NM_002051.2:c.922-27C>T NP_002042.1:n.922-27C>T
XM_005252442.2:c.925-27C>T XP_005252499.1:n.925-27C>T
XM_005252443.3:c.925-27C>T XP_005252500.1:n.925-27C>T
XM_005252443.5:c.925-27C>T XP_005252500.1:n.925-27C>T
NM_001002295.2:c.925-27C>T MANE Select NP_001002295.1:n.925-27C>T
NM_002051.3:c.922-27C>T NP_002042.1:n.922-27C>T
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