Canonical Allele Identifier: CA400470973

Gene: TBX4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61465830C>G , CM000679.2:g.61465830C>G	GRCh38
NC_000017.10:g.59543191C>G , CM000679.1:g.59543191C>G	GRCh37
NC_000017.9:g.56897973C>G	NCBI36
NG_008080.1:g.14385C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001321120.2:c.293C>G MANE Select	NP_001308049.1:p.Pro98Arg
ENST00000644296.1:c.293C>G MANE Select	ENSP00000495986.1:p.Pro98Arg
NM_018488.2:c.293C>G	NP_060958.2:p.Pro98Arg
NM_018488.3:c.293C>G	NP_060958.2:p.Pro98Arg
ENST00000240335.1:c.293C>G	ENSP00000240335.1:p.Pro98Arg
ENST00000393853.8:c.293C>G	ENSP00000377435.3:p.Pro98Arg
ENST00000589003.5:c.35C>G	ENSP00000467588.1:p.Pro12Arg
ENST00000590174.5:n.38C>G
ENST00000593249.5:n.210C>G
ENST00000642491.1:c.293C>G	ENSP00000495714.1:p.Pro98Arg
XM_005257835.3:c.293C>G	XP_005257892.2:p.Pro98Arg
XM_005257837.2:c.293C>G	XP_005257894.1:p.Pro98Arg
XM_011525490.1:c.482C>G	XP_011523792.1:p.Pro161Arg
XM_011525490.2:c.482C>G	XP_011523792.1:p.Pro161Arg
XM_011525491.1:c.482C>G	XP_011523793.1:p.Pro161Arg
XM_011525491.2:c.482C>G	XP_011523793.1:p.Pro161Arg
XM_011525492.1:c.293C>G	XP_011523794.1:p.Pro98Arg
XM_011525493.1:c.293C>G	XP_011523795.1:p.Pro98Arg
XM_011525494.1:c.293C>G	XP_011523796.1:p.Pro98Arg
XM_011525495.1:c.482C>G	XP_011523797.1:p.Pro161Arg
XM_011525495.2:c.482C>G	XP_011523797.1:p.Pro161Arg