Canonical Allele Identifier: CA645553562

Gene: GATA3

Linked Data

• ClinVar Variation Id: 623732
• ClinVar RCV Id: RCV000761715
• dbSNP Id: rs1564399278
• COSMIC: COSM5703738

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.8058764dup , CM000672.2:g.8058764dup	GRCh38
NC_000010.10:g.8100727dup , CM000672.1:g.8100727dup	GRCh37
NC_000010.9:g.8140733dup	NCBI36
NG_015859.1:g.9061dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346208.4:c.701dup	ENSP00000341619.3:p.Ser237GlnfsTer?
ENST00000379328.9:c.701dup MANE Select	ENSP00000368632.3:p.Ser237GlnfsTer?
ENST00000346208.3:c.701dup	ENSP00000341619.3:p.Ser237GlnfsTer?
ENST00000379328.7:c.701dup	ENSP00000368632.3:p.Ser237GlnfsTer?
ENST00000461472.1:n.366dup
NM_001002295.1:c.701dup	NP_001002295.1:p.Ser237GlnfsTer?
NM_002051.2:c.701dup	NP_002042.1:p.Ser237GlnfsTer?
XM_005252442.2:c.701dup	XP_005252499.1:p.Ser237GlnfsTer?
XM_005252443.3:c.701dup	XP_005252500.1:p.Ser237GlnfsTer?
XM_005252443.5:c.701dup	XP_005252500.1:p.Ser237GlnfsTer?
NM_001002295.2:c.701dup MANE Select	NP_001002295.1:p.Ser237GlnfsTer?
NM_002051.3:c.701dup	NP_002042.1:p.Ser237GlnfsTer?