Canonical Allele Identifier: CA386869423
Gene: TBX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2070375
ClinVar RCV Id: RCV002967089
MyVariant Identifiers: chr12:g.115112490A>G (hg19) chr12:g.114674685A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674685A>G , CM000674.2:g.114674685A>G GRCh38
NC_000012.11:g.115112490A>G , CM000674.1:g.115112490A>G GRCh37
NC_000012.10:g.113596873A>G NCBI36
NG_008315.1:g.14480T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1190T>C MANE Select ENSP00000257567.2:p.Phe397Ser
ENST00000257566.7:c.1250T>C ENSP00000257566.3:p.Phe417Ser
ENST00000349155.6:c.1190T>C ENSP00000257567.2:p.Phe397Ser
ENST00000613550.1:c.1190T>C ENSP00000480048.1:p.Phe397Ser
NM_005996.3:c.1190T>C NP_005987.3:p.Phe397Ser
NM_016569.3:c.1250T>C NP_057653.3:p.Phe417Ser
NM_005996.4:c.1190T>C MANE Select NP_005987.3:p.Phe397Ser
NM_016569.4:c.1250T>C NP_057653.3:p.Phe417Ser
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