Canonical Allele Identifier: CA6809959
Gene: TBX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 307366
ClinVar RCV Id: RCV000364920 RCV001550061
dbSNP Id: rs62640916
ExAC: 12:115112444 C / A
gnomAD v2: 12-115112444-C-A
gnomAD v3: 12-114674639-C-A
gnomAD v4: 12-114674639-C-A
MyVariant Identifiers: chr12:g.115112444C>A (hg19) chr12:g.114674639C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674639C>A , CM000674.2:g.114674639C>A GRCh38
NC_000012.11:g.115112444C>A , CM000674.1:g.115112444C>A GRCh37
NC_000012.10:g.113596827C>A NCBI36
NG_008315.1:g.14526G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1236G>T MANE Select ENSP00000257567.2:p.Ser412=
ENST00000257566.7:c.1296G>T ENSP00000257566.3:p.Ser432=
ENST00000349155.6:c.1236G>T ENSP00000257567.2:p.Ser412=
ENST00000613550.1:c.1236G>T ENSP00000480048.1:p.Ser412=
NM_005996.3:c.1236G>T NP_005987.3:p.Ser412=
NM_016569.3:c.1296G>T NP_057653.3:p.Ser432=
NM_005996.4:c.1236G>T MANE Select NP_005987.3:p.Ser412=
NM_016569.4:c.1296G>T NP_057653.3:p.Ser432=
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