Canonical Allele Identifier: CA6809783

Gene: TBX3

Linked Data

• ClinVar Variation Id: 307353
• ClinVar RCV Id: RCV000384904 ; RCV001706461
• dbSNP Id: rs34831817
• ExAC: 12:115109736 T / C
• gnomAD v2: 12-115109736-T-C
• gnomAD v3: 12-114671931-T-C
• gnomAD v4: 12-114671931-T-C
• MyVariant Identifiers: chr12:g.115109736T>C (hg19) ; chr12:g.114671931T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114671931T>C , CM000674.2:g.114671931T>C	GRCh38
NC_000012.11:g.115109736T>C , CM000674.1:g.115109736T>C	GRCh37
NC_000012.10:g.113594119T>C	NCBI36
NG_008315.1:g.17234A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.2082A>G MANE Select	ENSP00000257567.2:p.Lys694=
ENST00000257566.7:c.2142A>G	ENSP00000257566.3:p.Lys714=
ENST00000349155.6:c.2082A>G	ENSP00000257567.2:p.Lys694=
ENST00000613550.1:c.2079A>G	ENSP00000480048.1:p.Lys693=
NM_005996.3:c.2082A>G	NP_005987.3:p.Lys694=
NM_016569.3:c.2142A>G	NP_057653.3:p.Lys714=
NM_005996.4:c.2082A>G MANE Select	NP_005987.3:p.Lys694=
NM_016569.4:c.2142A>G	NP_057653.3:p.Lys714=