Canonical Allele Identifier: CA6809958
Gene: TBX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3058460
ClinVar RCV Id: RCV003977028
dbSNP Id: rs540908799
ExAC: 12:115112443 G / A
gnomAD v2: 12-115112443-G-A
gnomAD v3: 12-114674638-G-A
gnomAD v4: 12-114674638-G-A
MyVariant Identifiers: chr12:g.115112443G>A (hg19) chr12:g.114674638G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674638G>A , CM000674.2:g.114674638G>A GRCh38
NC_000012.11:g.115112443G>A , CM000674.1:g.115112443G>A GRCh37
NC_000012.10:g.113596826G>A NCBI36
NG_008315.1:g.14527C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1237C>T MANE Select ENSP00000257567.2:p.Pro413Ser
ENST00000257566.7:c.1297C>T ENSP00000257566.3:p.Pro433Ser
ENST00000349155.6:c.1237C>T ENSP00000257567.2:p.Pro413Ser
ENST00000613550.1:c.1237C>T ENSP00000480048.1:p.Pro413Ser
NM_005996.3:c.1237C>T NP_005987.3:p.Pro413Ser
NM_016569.3:c.1297C>T NP_057653.3:p.Pro433Ser
NM_005996.4:c.1237C>T MANE Select NP_005987.3:p.Pro413Ser
NM_016569.4:c.1297C>T NP_057653.3:p.Pro433Ser
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