Canonical Allele Identifier: CA400469124

Gene: TBX4

Linked Data

• gnomAD v4: 17-61456648-A-G
• MyVariant Identifiers: chr17:g.59534009A>G (hg19) ; chr17:g.61456648A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456648A>G , CM000679.2:g.61456648A>G	GRCh38
NC_000017.10:g.59534009A>G , CM000679.1:g.59534009A>G	GRCh37
NC_000017.9:g.56888791A>G	NCBI36
NG_008080.1:g.5203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.158A>G	ENSP00000495714.1:p.Asp53Gly
ENST00000644296.1:c.158A>G MANE Select	ENSP00000495986.1:p.Asp53Gly
ENST00000240335.1:c.158A>G	ENSP00000240335.1:p.Asp53Gly
ENST00000393853.8:c.158A>G	ENSP00000377435.3:p.Asp53Gly
ENST00000589003.5:c.-101A>G	ENSP00000467588.1:n.-101A>G
NM_018488.2:c.158A>G	NP_060958.2:p.Asp53Gly
XM_005257835.3:c.158A>G	XP_005257892.2:p.Asp53Gly
XM_005257837.2:c.158A>G	XP_005257894.1:p.Asp53Gly
XM_011525490.1:c.347A>G	XP_011523792.1:p.Asp116Gly
XM_011525491.1:c.347A>G	XP_011523793.1:p.Asp116Gly
XM_011525492.1:c.158A>G	XP_011523794.1:p.Asp53Gly
XM_011525493.1:c.158A>G	XP_011523795.1:p.Asp53Gly
XM_011525494.1:c.158A>G	XP_011523796.1:p.Asp53Gly
XM_011525495.1:c.347A>G	XP_011523797.1:p.Asp116Gly
NM_001321120.2:c.158A>G MANE Select	NP_001308049.1:p.Asp53Gly
NM_018488.3:c.158A>G	NP_060958.2:p.Asp53Gly
XM_011525490.2:c.347A>G	XP_011523792.1:p.Asp116Gly
XM_011525491.2:c.347A>G	XP_011523793.1:p.Asp116Gly
XM_011525495.2:c.347A>G	XP_011523797.1:p.Asp116Gly