Canonical Allele Identifier: CA386869424
Gene: TBX3 HGNC NCBI

Linked Data

gnomAD v4: 12-114674686-A-C
MyVariant Identifiers: chr12:g.115112491A>C (hg19) chr12:g.114674686A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674686A>C , CM000674.2:g.114674686A>C GRCh38
NC_000012.11:g.115112491A>C , CM000674.1:g.115112491A>C GRCh37
NC_000012.10:g.113596874A>C NCBI36
NG_008315.1:g.14479T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1189T>G MANE Select ENSP00000257567.2:p.Phe397Val
ENST00000257566.7:c.1249T>G ENSP00000257566.3:p.Phe417Val
ENST00000349155.6:c.1189T>G ENSP00000257567.2:p.Phe397Val
ENST00000613550.1:c.1189T>G ENSP00000480048.1:p.Phe397Val
NM_005996.3:c.1189T>G NP_005987.3:p.Phe397Val
NM_016569.3:c.1249T>G NP_057653.3:p.Phe417Val
NM_005996.4:c.1189T>G MANE Select NP_005987.3:p.Phe397Val
NM_016569.4:c.1249T>G NP_057653.3:p.Phe417Val
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