Canonical Allele Identifier: CA244143901
Gene: TBX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3174964
ClinVar RCV Id: RCV004474312
dbSNP Id: rs912240752
gnomAD v3: 12-114674674-G-A
gnomAD v4: 12-114674674-G-A
MyVariant Identifiers: chr12:g.115112479G>A (hg19) chr12:g.114674674G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674674G>A , CM000674.2:g.114674674G>A GRCh38
NC_000012.11:g.115112479G>A , CM000674.1:g.115112479G>A GRCh37
NC_000012.10:g.113596862G>A NCBI36
NG_008315.1:g.14491C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1201C>T MANE Select ENSP00000257567.2:p.Arg401Trp
ENST00000257566.7:c.1261C>T ENSP00000257566.3:p.Arg421Trp
ENST00000349155.6:c.1201C>T ENSP00000257567.2:p.Arg401Trp
ENST00000613550.1:c.1201C>T ENSP00000480048.1:p.Arg401Trp
NM_005996.3:c.1201C>T NP_005987.3:p.Arg401Trp
NM_016569.3:c.1261C>T NP_057653.3:p.Arg421Trp
NM_005996.4:c.1201C>T MANE Select NP_005987.3:p.Arg401Trp
NM_016569.4:c.1261C>T NP_057653.3:p.Arg421Trp
Search 100 bp 5'
Search 100 bp 3'