Canonical Allele Identifier: CA2269042082
Community Standard Title: NM_001321120.2(TBX4):c.743G= (p.Gly248=)
Gene: TBX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61479921G= , CM000679.2:g.61479921G= GRCh38
NC_000017.10:g.59557282G= , CM000679.1:g.59557282G= GRCh37
NC_000017.9:g.56912064G= NCBI36
NG_008080.1:g.28476G=

Transcript Alleles

HGVS Amino-acid Change
NM_001321120.2:c.743G= MANE Select NP_001308049.1:p.Gly248=
ENST00000644296.1:c.743G= MANE Select ENSP00000495986.1:p.Gly248=
NM_018488.2:c.743G= NP_060958.2:p.Gly248=
NM_018488.3:c.743G= NP_060958.2:p.Gly248=
ENST00000240335.1:c.743G= ENSP00000240335.1:p.Gly248=
ENST00000393853.8:c.743G= ENSP00000377435.3:p.Gly248=
ENST00000586874.2:n.246G=
ENST00000589449.5:n.273G=
ENST00000590174.5:n.488G=
ENST00000642491.1:c.743G= ENSP00000495714.1:p.Gly248=
XM_005257835.3:c.743G= XP_005257892.2:p.Gly248=
XM_005257837.2:c.743G= XP_005257894.1:p.Gly248=
XM_011525490.1:c.932G= XP_011523792.1:p.Gly311=
XM_011525490.2:c.932G= XP_011523792.1:p.Gly311=
XM_011525491.1:c.932G= XP_011523793.1:p.Gly311=
XM_011525491.2:c.932G= XP_011523793.1:p.Gly311=
XM_011525492.1:c.743G= XP_011523794.1:p.Gly248=
XM_011525493.1:c.743G= XP_011523795.1:p.Gly248=
XM_011525494.1:c.743G= XP_011523796.1:p.Gly248=
XM_011525495.1:c.932G= XP_011523797.1:p.Gly311=
XM_011525495.2:c.932G= XP_011523797.1:p.Gly311=