Canonical Allele Identifier: CA10641062

Gene: TBX3

Linked Data

• ClinVar Variation Id: 307326
• ClinVar RCV Id: RCV000330286
• dbSNP Id: rs886049003
• gnomAD v3: 12-114670459-C-G
• gnomAD v4: 12-114670459-C-G
• MyVariant Identifiers: chr12:g.115108264C>G (hg19) ; chr12:g.114670459C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114670459C>G , CM000674.2:g.114670459C>G	GRCh38
NC_000012.11:g.115108264C>G , CM000674.1:g.115108264C>G	GRCh37
NC_000012.10:g.113592647C>G	NCBI36
NG_008315.1:g.18706G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000349155.7:c.*1382G>C MANE Select	ENSP00000257567.2:n.*1382G>C
ENST00000257566.7:c.*1382G>C	ENSP00000257566.3:n.*1382G>C
ENST00000349155.6:c.*1382G>C	ENSP00000257567.2:n.*1382G>C
NM_005996.3:c.*1382G>C	NP_005987.3:n.*1382G>C
NM_016569.3:c.*1382G>C	NP_057653.3:n.*1382G>C
NM_005996.4:c.*1382G>C MANE Select	NP_005987.3:n.*1382G>C
NM_016569.4:c.*1382G>C	NP_057653.3:n.*1382G>C