Canonical Allele Identifier: CA400468991

Gene: TBX4

Linked Data

• MyVariant Identifiers: chr17:g.59533971C>G (hg19) ; chr17:g.61456610C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61456610C>G , CM000679.2:g.61456610C>G	GRCh38
NC_000017.10:g.59533971C>G , CM000679.1:g.59533971C>G	GRCh37
NC_000017.9:g.56888753C>G	NCBI36
NG_008080.1:g.5165C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642491.1:c.120C>G	ENSP00000495714.1:p.Ser40Arg
ENST00000644296.1:c.120C>G MANE Select	ENSP00000495986.1:p.Ser40Arg
ENST00000240335.1:c.120C>G	ENSP00000240335.1:p.Ser40Arg
ENST00000393853.8:c.120C>G	ENSP00000377435.3:p.Ser40Arg
ENST00000589003.5:c.-125-14C>G	ENSP00000467588.1:n.-125-14C>G
NM_018488.2:c.120C>G	NP_060958.2:p.Ser40Arg
XM_005257835.3:c.120C>G	XP_005257892.2:p.Ser40Arg
XM_005257837.2:c.120C>G	XP_005257894.1:p.Ser40Arg
XM_011525490.1:c.309C>G	XP_011523792.1:p.Ser103Arg
XM_011525491.1:c.309C>G	XP_011523793.1:p.Ser103Arg
XM_011525492.1:c.120C>G	XP_011523794.1:p.Ser40Arg
XM_011525493.1:c.120C>G	XP_011523795.1:p.Ser40Arg
XM_011525494.1:c.120C>G	XP_011523796.1:p.Ser40Arg
XM_011525495.1:c.309C>G	XP_011523797.1:p.Ser103Arg
NM_001321120.2:c.120C>G MANE Select	NP_001308049.1:p.Ser40Arg
NM_018488.3:c.120C>G	NP_060958.2:p.Ser40Arg
XM_011525490.2:c.309C>G	XP_011523792.1:p.Ser103Arg
XM_011525491.2:c.309C>G	XP_011523793.1:p.Ser103Arg
XM_011525495.2:c.309C>G	XP_011523797.1:p.Ser103Arg