Canonical Allele Identifier: CA2573054517

Gene: TBX4

Linked Data

• ClinVar Variation Id: 1341457
• ClinVar RCV Id: RCV001829371
• dbSNP Id: rs1414958198
• gnomAD v4: 17-61456627-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456633dup , CM000679.2:g.61456633dup	GRCh38
NC_000017.10:g.59533994dup , CM000679.1:g.59533994dup	GRCh37
NC_000017.9:g.56888776dup	NCBI36
NG_008080.1:g.5188dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.143dup	ENSP00000495714.1:p.Pro50ThrfsTer24
ENST00000644296.1:c.143dup MANE Select	ENSP00000495986.1:p.Pro50ThrfsTer24
ENST00000240335.1:c.143dup	ENSP00000240335.1:p.Pro50ThrfsTer24
ENST00000393853.8:c.143dup	ENSP00000377435.3:p.Pro50ThrfsTer24
ENST00000589003.5:c.-116dup	ENSP00000467588.1:n.-116dup
NM_018488.2:c.143dup	NP_060958.2:p.Pro50ThrfsTer24
XM_005257835.3:c.143dup	XP_005257892.2:p.Pro50ThrfsTer24
XM_005257837.2:c.143dup	XP_005257894.1:p.Pro50ThrfsTer24
XM_011525490.1:c.332dup	XP_011523792.1:p.Pro113ThrfsTer24
XM_011525491.1:c.332dup	XP_011523793.1:p.Pro113ThrfsTer24
XM_011525492.1:c.143dup	XP_011523794.1:p.Pro50ThrfsTer24
XM_011525493.1:c.143dup	XP_011523795.1:p.Pro50ThrfsTer24
XM_011525494.1:c.143dup	XP_011523796.1:p.Pro50ThrfsTer24
XM_011525495.1:c.332dup	XP_011523797.1:p.Pro113ThrfsTer24
NM_001321120.2:c.143dup MANE Select	NP_001308049.1:p.Pro50ThrfsTer24
NM_018488.3:c.143dup	NP_060958.2:p.Pro50ThrfsTer24
XM_011525490.2:c.332dup	XP_011523792.1:p.Pro113ThrfsTer24
XM_011525491.2:c.332dup	XP_011523793.1:p.Pro113ThrfsTer24
XM_011525495.2:c.332dup	XP_011523797.1:p.Pro113ThrfsTer24