Canonical Allele Identifier: CA5404428

Gene: GATA3

Linked Data

• ClinVar Variation Id: 802559
• ClinVar RCV Id: RCV000988325 ; RCV002508791
• dbSNP Id: rs771019738
• ExAC: 10:8100727 TC / T
• gnomAD v2: 10-8100727-TC-T
• gnomAD v3: 10-8058764-TC-T
• gnomAD v4: 10-8058764-TC-T
• COSMIC: COSM1349268
• MyVariant Identifiers: chr10:g.8100728del (hg19) ; chr10:g.8058765del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058771del , CM000672.2:g.8058771del	GRCh38
NC_000010.10:g.8100734del , CM000672.1:g.8100734del	GRCh37
NC_000010.9:g.8140740del	NCBI36
NG_015859.1:g.9068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.708del	ENSP00000341619.3:p.Ser237AlafsTer28
ENST00000379328.9:c.708del MANE Select	ENSP00000368632.3:p.Ser237AlafsTer29
ENST00000346208.3:c.708del	ENSP00000341619.3:p.Ser237AlafsTer28
ENST00000379328.7:c.708del	ENSP00000368632.3:p.Ser237AlafsTer29
ENST00000461472.1:n.373del
NM_001002295.1:c.708del	NP_001002295.1:p.Ser237AlafsTer29
NM_002051.2:c.708del	NP_002042.1:p.Ser237AlafsTer28
XM_005252442.2:c.708del	XP_005252499.1:p.Ser237AlafsTer29
XM_005252443.3:c.708del	XP_005252500.1:p.Ser237AlafsTer29
XM_005252443.5:c.708del	XP_005252500.1:p.Ser237AlafsTer29
NM_001002295.2:c.708del MANE Select	NP_001002295.1:p.Ser237AlafsTer29
NM_002051.3:c.708del	NP_002042.1:p.Ser237AlafsTer28