Canonical Allele Identifier: CA386869326
Gene: TBX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2229047
ClinVar RCV Id: RCV002692454
dbSNP Id: rs1423724888
gnomAD v2: 12-115112438-G-C
gnomAD v3: 12-114674633-G-C
gnomAD v4: 12-114674633-G-C
MyVariant Identifiers: chr12:g.115112438G>C (hg19) chr12:g.114674633G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674633G>C , CM000674.2:g.114674633G>C GRCh38
NC_000012.11:g.115112438G>C , CM000674.1:g.115112438G>C GRCh37
NC_000012.10:g.113596821G>C NCBI36
NG_008315.1:g.14532C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1242C>G MANE Select ENSP00000257567.2:p.Asp414Glu
ENST00000257566.7:c.1302C>G ENSP00000257566.3:p.Asp434Glu
ENST00000349155.6:c.1242C>G ENSP00000257567.2:p.Asp414Glu
ENST00000613550.1:c.1242C>G ENSP00000480048.1:p.Asp414Glu
NM_005996.3:c.1242C>G NP_005987.3:p.Asp414Glu
NM_016569.3:c.1302C>G NP_057653.3:p.Asp434Glu
NM_005996.4:c.1242C>G MANE Select NP_005987.3:p.Asp414Glu
NM_016569.4:c.1302C>G NP_057653.3:p.Asp434Glu
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