Canonical Allele Identifier: CA400469129

Gene: TBX4

Linked Data

• gnomAD v4: 17-61456649-C-G
• MyVariant Identifiers: chr17:g.59534010C>G (hg19) ; chr17:g.61456649C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456649C>G , CM000679.2:g.61456649C>G	GRCh38
NC_000017.10:g.59534010C>G , CM000679.1:g.59534010C>G	GRCh37
NC_000017.9:g.56888792C>G	NCBI36
NG_008080.1:g.5204C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.159C>G	ENSP00000495714.1:p.Asp53Glu
ENST00000644296.1:c.159C>G MANE Select	ENSP00000495986.1:p.Asp53Glu
ENST00000240335.1:c.159C>G	ENSP00000240335.1:p.Asp53Glu
ENST00000393853.8:c.159C>G	ENSP00000377435.3:p.Asp53Glu
ENST00000589003.5:c.-100C>G	ENSP00000467588.1:n.-100C>G
NM_018488.2:c.159C>G	NP_060958.2:p.Asp53Glu
XM_005257835.3:c.159C>G	XP_005257892.2:p.Asp53Glu
XM_005257837.2:c.159C>G	XP_005257894.1:p.Asp53Glu
XM_011525490.1:c.348C>G	XP_011523792.1:p.Asp116Glu
XM_011525491.1:c.348C>G	XP_011523793.1:p.Asp116Glu
XM_011525492.1:c.159C>G	XP_011523794.1:p.Asp53Glu
XM_011525493.1:c.159C>G	XP_011523795.1:p.Asp53Glu
XM_011525494.1:c.159C>G	XP_011523796.1:p.Asp53Glu
XM_011525495.1:c.348C>G	XP_011523797.1:p.Asp116Glu
NM_001321120.2:c.159C>G MANE Select	NP_001308049.1:p.Asp53Glu
NM_018488.3:c.159C>G	NP_060958.2:p.Asp53Glu
XM_011525490.2:c.348C>G	XP_011523792.1:p.Asp116Glu
XM_011525491.2:c.348C>G	XP_011523793.1:p.Asp116Glu
XM_011525495.2:c.348C>G	XP_011523797.1:p.Asp116Glu