Canonical Allele Identifier: CA400473885

Gene: TBX4

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61479927G>A , CM000679.2:g.61479927G>A	GRCh38
NC_000017.10:g.59557288G>A , CM000679.1:g.59557288G>A	GRCh37
NC_000017.9:g.56912070G>A	NCBI36
NG_008080.1:g.28482G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001321120.2:c.749G>A MANE Select	NP_001308049.1:p.Arg250Gln
ENST00000644296.1:c.749G>A MANE Select	ENSP00000495986.1:p.Arg250Gln
NM_018488.2:c.749G>A	NP_060958.2:p.Arg250Gln
NM_018488.3:c.749G>A	NP_060958.2:p.Arg250Gln
ENST00000240335.1:c.749G>A	ENSP00000240335.1:p.Arg250Gln
ENST00000393853.8:c.749G>A	ENSP00000377435.3:p.Arg250Gln
ENST00000586874.2:n.252G>A
ENST00000589449.5:n.279G>A
ENST00000590174.5:n.494G>A
ENST00000642491.1:c.749G>A	ENSP00000495714.1:p.Arg250Gln
XM_005257835.3:c.749G>A	XP_005257892.2:p.Arg250Gln
XM_005257837.2:c.749G>A	XP_005257894.1:p.Arg250Gln
XM_011525490.1:c.938G>A	XP_011523792.1:p.Arg313Gln
XM_011525490.2:c.938G>A	XP_011523792.1:p.Arg313Gln
XM_011525491.1:c.938G>A	XP_011523793.1:p.Arg313Gln
XM_011525491.2:c.938G>A	XP_011523793.1:p.Arg313Gln
XM_011525492.1:c.749G>A	XP_011523794.1:p.Arg250Gln
XM_011525493.1:c.749G>A	XP_011523795.1:p.Arg250Gln
XM_011525494.1:c.749G>A	XP_011523796.1:p.Arg250Gln
XM_011525495.1:c.938G>A	XP_011523797.1:p.Arg313Gln
XM_011525495.2:c.938G>A	XP_011523797.1:p.Arg313Gln