Canonical Allele Identifier: CA683835268
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs1253337671
gnomAD v3: 12-114670497-C-G
gnomAD v4: 12-114670497-C-G
MyVariant Identifiers: chr12:g.115108302C>G (hg19) chr12:g.114670497C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114670497C>G , CM000674.2:g.114670497C>G GRCh38
NC_000012.11:g.115108302C>G , CM000674.1:g.115108302C>G GRCh37
NC_000012.10:g.113592685C>G NCBI36
NG_008315.1:g.18668G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.*1344G>C MANE Select ENSP00000257567.2:n.*1344G>C
ENST00000257566.7:c.*1344G>C ENSP00000257566.3:n.*1344G>C
ENST00000349155.6:c.*1344G>C ENSP00000257567.2:n.*1344G>C
NM_005996.3:c.*1344G>C NP_005987.3:n.*1344G>C
NM_016569.3:c.*1344G>C NP_057653.3:n.*1344G>C
NM_005996.4:c.*1344G>C MANE Select NP_005987.3:n.*1344G>C
NM_016569.4:c.*1344G>C NP_057653.3:n.*1344G>C
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