Canonical Allele Identifier: CA126736

Gene: GATA3

Linked Data

• ClinVar Variation Id: 16626
• ClinVar RCV Id: RCV000018105 ; RCV000760379
• dbSNP Id: rs104894164
• COSMIC: COSM41680
• MyVariant Identifiers: chr10:g.8115750C>T (hg19) ; chr10:g.8073787C>T (hg38)
• PubMed: PMID:11389161 ; PMID:19253381

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8073787C>T , CM000672.2:g.8073787C>T	GRCh38
NC_000010.10:g.8115750C>T , CM000672.1:g.8115750C>T	GRCh37
NC_000010.9:g.8155756C>T	NCBI36
NG_015859.1:g.24084C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.1096C>T	ENSP00000341619.3:p.Arg366Ter
ENST00000379328.9:c.1099C>T MANE Select	ENSP00000368632.3:p.Arg367Ter
ENST00000346208.3:c.1096C>T	ENSP00000341619.3:p.Arg366Ter
ENST00000379328.7:c.1099C>T	ENSP00000368632.3:p.Arg367Ter
ENST00000461472.1:n.618C>T
NM_001002295.1:c.1099C>T	NP_001002295.1:p.Arg367Ter
NM_002051.2:c.1096C>T	NP_002042.1:p.Arg366Ter
XM_005252442.2:c.1099C>T	XP_005252499.1:p.Arg367Ter
XM_005252443.3:c.1099C>T	XP_005252500.1:p.Arg367Ter
XM_005252443.5:c.1099C>T	XP_005252500.1:p.Arg367Ter
NM_001002295.2:c.1099C>T MANE Select	NP_001002295.1:p.Arg367Ter
NM_002051.3:c.1096C>T	NP_002042.1:p.Arg366Ter