Canonical Allele Identifier: CA6809955
Gene: TBX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 307365
ClinVar RCV Id: RCV000303192 RCV003930300
dbSNP Id: rs375076522
ExAC: 12:115112430 T / C
gnomAD v2: 12-115112430-T-C
gnomAD v3: 12-114674625-T-C
gnomAD v4: 12-114674625-T-C
MyVariant Identifiers: chr12:g.115112430T>C (hg19) chr12:g.114674625T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674625T>C , CM000674.2:g.114674625T>C GRCh38
NC_000012.11:g.115112430T>C , CM000674.1:g.115112430T>C GRCh37
NC_000012.10:g.113596813T>C NCBI36
NG_008315.1:g.14540A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1250A>G MANE Select ENSP00000257567.2:p.His417Arg
ENST00000257566.7:c.1310A>G ENSP00000257566.3:p.His437Arg
ENST00000349155.6:c.1250A>G ENSP00000257567.2:p.His417Arg
ENST00000613550.1:c.1250A>G ENSP00000480048.1:p.His417Arg
NM_005996.3:c.1250A>G NP_005987.3:p.His417Arg
NM_016569.3:c.1310A>G NP_057653.3:p.His437Arg
NM_005996.4:c.1250A>G MANE Select NP_005987.3:p.His417Arg
NM_016569.4:c.1310A>G NP_057653.3:p.His437Arg
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