Canonical Allele Identifier: CA6809961
Gene: TBX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 307367
ClinVar RCV Id: RCV000272499
dbSNP Id: rs148511845
ExAC: 12:115112447 C / T
gnomAD v2: 12-115112447-C-T
gnomAD v3: 12-114674642-C-T
gnomAD v4: 12-114674642-C-T
MyVariant Identifiers: chr12:g.115112447C>T (hg19) chr12:g.114674642C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674642C>T , CM000674.2:g.114674642C>T GRCh38
NC_000012.11:g.115112447C>T , CM000674.1:g.115112447C>T GRCh37
NC_000012.10:g.113596830C>T NCBI36
NG_008315.1:g.14523G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1233G>A MANE Select ENSP00000257567.2:p.Ala411=
ENST00000257566.7:c.1293G>A ENSP00000257566.3:p.Ala431=
ENST00000349155.6:c.1233G>A ENSP00000257567.2:p.Ala411=
ENST00000613550.1:c.1233G>A ENSP00000480048.1:p.Ala411=
NM_005996.3:c.1233G>A NP_005987.3:p.Ala411=
NM_016569.3:c.1293G>A NP_057653.3:p.Ala431=
NM_005996.4:c.1233G>A MANE Select NP_005987.3:p.Ala411=
NM_016569.4:c.1293G>A NP_057653.3:p.Ala431=
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