Canonical Allele Identifier: CA10640356

Gene: TBX3

Linked Data

• ClinVar Variation Id: 307350
• ClinVar RCV Id: RCV000376749
• dbSNP Id: rs886049008
• gnomAD v2: 12-115109631-G-C
• gnomAD v3: 12-114671826-G-C
• gnomAD v4: 12-114671826-G-C
• MyVariant Identifiers: chr12:g.115109631G>C (hg19) ; chr12:g.114671826G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114671826G>C , CM000674.2:g.114671826G>C	GRCh38
NC_000012.11:g.115109631G>C , CM000674.1:g.115109631G>C	GRCh37
NC_000012.10:g.113594014G>C	NCBI36
NG_008315.1:g.17339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.*15C>G MANE Select	ENSP00000257567.2:n.*15C>G
ENST00000257566.7:c.*15C>G	ENSP00000257566.3:n.*15C>G
ENST00000349155.6:c.*15C>G	ENSP00000257567.2:n.*15C>G
NM_005996.3:c.*15C>G	NP_005987.3:n.*15C>G
NM_016569.3:c.*15C>G	NP_057653.3:n.*15C>G
NM_005996.4:c.*15C>G MANE Select	NP_005987.3:n.*15C>G
NM_016569.4:c.*15C>G	NP_057653.3:n.*15C>G