Canonical Allele Identifier: CA501138839

Gene: TBX4

Linked Data

• dbSNP Id: rs1439548092
• gnomAD v2: 17-59533947-C-G
• gnomAD v4: 17-61456586-C-G
• MyVariant Identifiers: chr17:g.59533947C>G (hg19) ; chr17:g.61456586C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456586C>G , CM000679.2:g.61456586C>G	GRCh38
NC_000017.10:g.59533947C>G , CM000679.1:g.59533947C>G	GRCh37
NC_000017.9:g.56888729C>G	NCBI36
NG_008080.1:g.5141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.96C>G	ENSP00000495714.1:p.Pro32=
ENST00000644296.1:c.96C>G MANE Select	ENSP00000495986.1:p.Pro32=
ENST00000240335.1:c.96C>G	ENSP00000240335.1:p.Pro32=
ENST00000393853.8:c.96C>G	ENSP00000377435.3:p.Pro32=
ENST00000589003.5:c.-125-38C>G	ENSP00000467588.1:n.-125-38C>G
NM_018488.2:c.96C>G	NP_060958.2:p.Pro32=
XM_005257835.3:c.96C>G	XP_005257892.2:p.Pro32=
XM_005257837.2:c.96C>G	XP_005257894.1:p.Pro32=
XM_011525490.1:c.285C>G	XP_011523792.1:p.Pro95=
XM_011525491.1:c.285C>G	XP_011523793.1:p.Pro95=
XM_011525492.1:c.96C>G	XP_011523794.1:p.Pro32=
XM_011525493.1:c.96C>G	XP_011523795.1:p.Pro32=
XM_011525494.1:c.96C>G	XP_011523796.1:p.Pro32=
XM_011525495.1:c.285C>G	XP_011523797.1:p.Pro95=
NM_001321120.2:c.96C>G MANE Select	NP_001308049.1:p.Pro32=
NM_018488.3:c.96C>G	NP_060958.2:p.Pro32=
XM_011525490.2:c.285C>G	XP_011523792.1:p.Pro95=
XM_011525491.2:c.285C>G	XP_011523793.1:p.Pro95=
XM_011525495.2:c.285C>G	XP_011523797.1:p.Pro95=