Canonical Allele Identifier: CA10641082

Gene: TBX3

Linked Data

• ClinVar Variation Id: 307346
• ClinVar RCV Id: RCV000316712 ; RCV001551042
• dbSNP Id: rs77971713
• gnomAD v2: 12-115109401-G-A
• gnomAD v3: 12-114671596-G-A
• gnomAD v4: 12-114671596-G-A
• MyVariant Identifiers: chr12:g.115109401G>A (hg19) ; chr12:g.114671596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114671596G>A , CM000674.2:g.114671596G>A	GRCh38
NC_000012.11:g.115109401G>A , CM000674.1:g.115109401G>A	GRCh37
NC_000012.10:g.113593784G>A	NCBI36
NG_008315.1:g.17569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.*245C>T MANE Select	ENSP00000257567.2:n.*245C>T
ENST00000257566.7:c.*245C>T	ENSP00000257566.3:n.*245C>T
ENST00000349155.6:c.*245C>T	ENSP00000257567.2:n.*245C>T
NM_005996.3:c.*245C>T	NP_005987.3:n.*245C>T
NM_016569.3:c.*245C>T	NP_057653.3:n.*245C>T
NM_005996.4:c.*245C>T MANE Select	NP_005987.3:n.*245C>T
NM_016569.4:c.*245C>T	NP_057653.3:n.*245C>T