Canonical Allele Identifier: CA386869645
Gene: TBX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2012012
ClinVar RCV Id: RCV002856132
gnomAD v4: 12-114674788-C-T
COSMIC: COSM4522123
MyVariant Identifiers: chr12:g.115112593C>T (hg19) chr12:g.114674788C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674788C>T , CM000674.2:g.114674788C>T GRCh38
NC_000012.11:g.115112593C>T , CM000674.1:g.115112593C>T GRCh37
NC_000012.10:g.113596976C>T NCBI36
NG_008315.1:g.14377G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1087G>A MANE Select ENSP00000257567.2:p.Glu363Lys
ENST00000257566.7:c.1147G>A ENSP00000257566.3:p.Glu383Lys
ENST00000349155.6:c.1087G>A ENSP00000257567.2:p.Glu363Lys
ENST00000613550.1:c.1087G>A ENSP00000480048.1:p.Glu363Lys
NM_005996.3:c.1087G>A NP_005987.3:p.Glu363Lys
NM_016569.3:c.1147G>A NP_057653.3:p.Glu383Lys
NM_005996.4:c.1087G>A MANE Select NP_005987.3:p.Glu363Lys
NM_016569.4:c.1147G>A NP_057653.3:p.Glu383Lys
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