Canonical Allele Identifier: CA482136171
Gene: TBX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3047437
ClinVar RCV Id: RCV003949417
dbSNP Id: rs1380113912
gnomAD v2: 12-115112489-G-A
gnomAD v4: 12-114674684-G-A
MyVariant Identifiers: chr12:g.115112489G>A (hg19) chr12:g.114674684G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674684G>A , CM000674.2:g.114674684G>A GRCh38
NC_000012.11:g.115112489G>A , CM000674.1:g.115112489G>A GRCh37
NC_000012.10:g.113596872G>A NCBI36
NG_008315.1:g.14481C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000349155.7:c.1191C>T MANE Select ENSP00000257567.2:p.Phe397=
ENST00000257566.7:c.1251C>T ENSP00000257566.3:p.Phe417=
ENST00000349155.6:c.1191C>T ENSP00000257567.2:p.Phe397=
ENST00000613550.1:c.1191C>T ENSP00000480048.1:p.Phe397=
NM_005996.3:c.1191C>T NP_005987.3:p.Phe397=
NM_016569.3:c.1251C>T NP_057653.3:p.Phe417=
NM_005996.4:c.1191C>T MANE Select NP_005987.3:p.Phe397=
NM_016569.4:c.1251C>T NP_057653.3:p.Phe417=
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Search 100 bp 3'