Canonical Allele Identifier: CA244140259

Gene: TBX3

Linked Data

• dbSNP Id: rs1050039294
• gnomAD v2: 12-115108198-C-G
• gnomAD v3: 12-114670393-C-G
• gnomAD v4: 12-114670393-C-G
• MyVariant Identifiers: chr12:g.115108198C>G (hg19) ; chr12:g.114670393C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114670393C>G , CM000674.2:g.114670393C>G	GRCh38
NC_000012.11:g.115108198C>G , CM000674.1:g.115108198C>G	GRCh37
NC_000012.10:g.113592581C>G	NCBI36
NG_008315.1:g.18772G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.*1448G>C MANE Select	ENSP00000257567.2:n.*1448G>C
ENST00000257566.7:c.*1448G>C	ENSP00000257566.3:n.*1448G>C
ENST00000349155.6:c.*1448G>C	ENSP00000257567.2:n.*1448G>C
NM_005996.3:c.*1448G>C	NP_005987.3:n.*1448G>C
NM_016569.3:c.*1448G>C	NP_057653.3:n.*1448G>C
NM_005996.4:c.*1448G>C MANE Select	NP_005987.3:n.*1448G>C
NM_016569.4:c.*1448G>C	NP_057653.3:n.*1448G>C